Proband information
Proband id | 1030 |
---|---|
Systematic Name (NM_004992.3:) |
c.397C>T |
Protein name (NP_004983) |
p.Arg133Cys |
Alternate systematic Name (NM_001110792.1:) |
c.433C>T |
Alternate Protein name (NP_001104262) |
p.(Arg145Cys) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296882G>A |
Mutation type | Missense |
Domain | MBD |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | |
Detection | |
Extent | |
Source of DNA | |
Carrier | NC |
Carrier result | |
Other mutations | |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | |
Phenotype-class | Rett syndrome-Not certain |
Reference | Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-Not certain | 7 | :Bunyan, D.:: | |
2 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-Not certain | 16 | :Bunyan, D.:: | |
3 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-Not certain | 56 | MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105 | |
4 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-Not certain | 57 | MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105 | |
5 | c.397C>T | p.Arg133Cys | Female | Variation not found in parents | Rett syndrome-Preserved speech | 105 | Rett syndrome: analysis of MeCP2 and clinical characterization of 31 patients:Huppke, P., Laccone, F., Krämer, N., Engel, W., Hanefeld, F.:Human Molecular Genetics: 10814718 |
6 | c.397C>T | p.Arg133Cys | Female | Variation not found in parents | Rett syndrome-Preserved speech | 156 | Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome:Obata, K., Matsuishi, T., Yamashita, Y., Fukuda, T., Kuwajima, K., Horiuchi, I., Nagamitsu, S., Iwanaga, R., Kimura, A., Omori, I., Endo, S., Mori, K., Kondo, I.:Journal of Medical Genetics: 10991688 |
7 | c.397C>T | p.Arg133Cys | Female | Variation not found in parents | Rett syndrome-Classical | 157 | Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome:Obata, K., Matsuishi, T., Yamashita, Y., Fukuda, T., Kuwajima, K., Horiuchi, I., Nagamitsu, S., Iwanaga, R., Kimura, A., Omori, I., Endo, S., Mori, K., Kondo, I.:Journal of Medical Genetics: 10991688 |
8 | c.397C>T | p.Arg133Cys | Female | Variation not found in parents | Rett syndrome-Classical | 158 | Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome:Obata, K., Matsuishi, T., Yamashita, Y., Fukuda, T., Kuwajima, K., Horiuchi, I., Nagamitsu, S., Iwanaga, R., Kimura, A., Omori, I., Endo, S., Mori, K., Kondo, I.:Journal of Medical Genetics: 10991688 |
9 | c.397C>T | p.Arg133Cys | Female | Neither parent is carrier | Rett syndrome-Not certain | 263 | MECP2 mutations in sporadic cases of rett syndrome are almost exclusively of paternal origin:Trappe, R., Laccone, F., Cobilanschi, J., Meins, M., Huppke, P., Hanefeld, F., Engel, W.:American Journal of Human Genetics: 11309679 |
10 | c.397C>T | p.Arg133Cys | Female | Neither parent is carrier | Rett syndrome-Not certain | 264 | MECP2 mutations in sporadic cases of rett syndrome are almost exclusively of paternal origin:Trappe, R., Laccone, F., Cobilanschi, J., Meins, M., Huppke, P., Hanefeld, F., Engel, W.:American Journal of Human Genetics: 11309679 |
11 | c.397C>T | p.Arg133Cys | Female | Neither parent is carrier | Rett syndrome-Not certain | 288 | MECP2 mutations in sporadic cases of rett syndrome are almost exclusively of paternal origin:Trappe, R., Laccone, F., Cobilanschi, J., Meins, M., Huppke, P., Hanefeld, F., Engel, W.:American Journal of Human Genetics: 11309679 |
12 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-Classical | 292 | MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features:Auranen, M., Vanhala, MD, Vosman, M., Levander, M., Varilo, T., Hietala, M., Riikonen, R., Peltonen, L., Järvelä, I.:Neurology: 11245712 | |
13 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-Classical | 293 | MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features:Auranen, M., Vanhala, MD, Vosman, M., Levander, M., Varilo, T., Hietala, M., Riikonen, R., Peltonen, L., Järvelä, I.:Neurology: 11245712 | |
14 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-Classical | 294 | MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features:Auranen, M., Vanhala, MD, Vosman, M., Levander, M., Varilo, T., Hietala, M., Riikonen, R., Peltonen, L., Järvelä, I.:Neurology: 11245712 | |
15 | c.397C>T | p.Arg133Cys | Female | Mother is not carrier | Rett syndrome-Atypical | 355 | ::: |
16 | c.397C>T | p.Arg133Cys | Female | Mother is not carrier, Father is not carrier | Rett syndrome-Classical | 377 | ::: |
17 | c.397C>T | p.Arg133Cys | Female | Father is not carrier, Mother is not carrier, sister is not carrier | Rett syndrome-Classical | 380 | ::: |
18 | c.397C>T | p.Arg133Cys | Female | Father is not carrier, Mother is not carrier | Not Known | 383 | ::: |
19 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-Classical | 400 | ::: | |
20 | c.397C>T | p.Arg133Cys | Female | Mother is not carrier, Father is not carrier | Rett syndrome-Classical | 411 | ::: |
21 | c.397C>T | p.Arg133Cys | Female | Mother is not carrier | Rett syndrome-Atypical | 418 | ::: |
22 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-Atypical | 451 | ::: | |
23 | c.397C>T | p.Arg133Cys | Unknown | Rett syndrome-Forme fruste | 880 | ::: | |
24 | c.397C>T | p.Arg133Cys | Unknown | Rett syndrome-Preserved speech | 881 | ::: | |
25 | c.397C>T | p.Arg133Cys | Unknown | Rett syndrome-Not certain | 866 | Mutation screening in Rett syndrome patients:Xiang, Fengqing, Buervenich, Silvia, Nicolao, Piero, Bailey, Mark E. S., Zhang, Zhiping, Anvret, Maria:Journal of Medical Genetics: 10745042 | |
26 | c.397C>T | p.Arg133Cys | Unknown | Not present in parents | Rett syndrome-Classical | 839 | Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2:Amir, Ruthie E., Van den Veyver, Ignatia B., Wan, Mimi, Tran, Charles Q., Francke, Uta and Zoghbi, Huda Y.:Nature Genetics: 10508514 |
27 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-Not certain | 1030 | Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898 | |
28 | c.397C>T | p.Arg133Cys | Female | Neither parent has variation | Rett syndrome-Preserved speech | 1175 | Preserved speech variants of the Rett syndrome: molecular and clinical analysis:Zappella, Michele, Meloni, Ilaria, Longo, Ilaria, Hayek, Giuseppe and Renieri, Alessandra:American Journal of Human Genetics: 11746022 |
29 | c.397C>T | p.Arg133Cys | Female | Neither parent has variation | Rett syndrome-Preserved speech | 1176 | Preserved speech variants of the Rett syndrome: molecular and clinical analysis:Zappella, Michele, Meloni, Ilaria, Longo, Ilaria, Hayek, Giuseppe and Renieri, Alessandra:American Journal of Human Genetics: 11746022 |
30 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-Classical | 1219 | Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome:Chae, Jong Hee, Hwang, Yong, Seung and Kim, Ki Joong:Journal of Child Neurology: 11913567 | |
31 | c.397C>T | p.Arg133Cys | Female | Neither parent has variation | Rett syndrome-Classical | 1224 | MECP2 mutation screening in Swedish classical Rett syndrome females:Erlandson, A., Hallberg, B., Hagberg, B., Wahlström, and Martinsson, T.:European Child and Adolescent Psychiatry: 11469283 |
32 | c.397C>T | p.Arg133Cys | Unknown | Mutation not carried by parents | Rett syndrome-Not certain | 1280 | Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 |
33 | c.397C>T | p.Arg133Cys | Unknown | Mutation not carried by parents | Rett syndrome-Not certain | 1281 | Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 |
34 | c.397C>T | p.Arg133Cys | Unknown | Mutation not carried by parents | Rett syndrome-Not certain | 1282 | Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 |
35 | c.397C>T | p.Arg133Cys | Unknown | Mutation not carried by parents | Rett syndrome-Not certain | 1283 | Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 |
36 | c.397C>T | p.Arg133Cys | Unknown | Mutation not carried by parents | Rett syndrome-Not certain | 1284 | Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 |
37 | c.397C>T | p.Arg133Cys | Unknown | Mutation not carried by parents | Rett syndrome-Not certain | 1285 | Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 |
38 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-Classical | 1395 | DHPLC analysis of the MECP2 gene in Italian Rett patients:Nicolao, Piero, Carella, Massimo, Giometto, Bruno, Tavolato, Bruno, Cattin, Riccardo, Giovannucci-Uzielli, Maria Luisa, Vacca, Marcella, Regione, Floriana Della, Piva, Stefania, Bortoluzzi, Stefania, Gasparini, Paolo:Human mutation: 11462237 | |
39 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-Classical | 1438 | Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females:Vacca, Marcella, Filippini, Francesco, Budillon, Alberta, Rossi, Valeria, Mercadante, Grazia, Manzati, Alberta, Gualandi, Francesca, Bigoni, Stefania, Trabanelli, Cecilia, Pini, Giorgio, Calzolari, Elisa, Ferlini, Alessandra, Meloni, Ilaria, Hayek, Giuseppe, Zappella, Michele, Renieri, Alessandra, D'Urso, Michele, D'Esposito, Maurizio, MacDonald, Fiona, Kerr, Alison, Dhanjal, Seema, Hultén, Maj:Journal of Molecular Medicine: 11269512 | |
40 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-Classical | 1439 | Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females:Vacca, Marcella, Filippini, Francesco, Budillon, Alberta, Rossi, Valeria, Mercadante, Grazia, Manzati, Alberta, Gualandi, Francesca, Bigoni, Stefania, Trabanelli, Cecilia, Pini, Giorgio, Calzolari, Elisa, Ferlini, Alessandra, Meloni, Ilaria, Hayek, Giuseppe, Zappella, Michele, Renieri, Alessandra, D'Urso, Michele, D'Esposito, Maurizio, MacDonald, Fiona, Kerr, Alison, Dhanjal, Seema, Hultén, Maj:Journal of Molecular Medicine: 11269512 | |
41 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-Classical | 1440 | Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females:Vacca, Marcella, Filippini, Francesco, Budillon, Alberta, Rossi, Valeria, Mercadante, Grazia, Manzati, Alberta, Gualandi, Francesca, Bigoni, Stefania, Trabanelli, Cecilia, Pini, Giorgio, Calzolari, Elisa, Ferlini, Alessandra, Meloni, Ilaria, Hayek, Giuseppe, Zappella, Michele, Renieri, Alessandra, D'Urso, Michele, D'Esposito, Maurizio, MacDonald, Fiona, Kerr, Alison, Dhanjal, Seema, Hultén, Maj:Journal of Molecular Medicine: 11269512 | |
42 | c.397C>T | p.Arg133Cys | Unknown | Rett syndrome-atypical | 1504 | Molecular analysis of Japanese patients with Rett syndrome: identification of five novel mutations and genotype-phenotype correlation:Yamada, Yasukazu, Miura, Kiyokuni, Kumagai, Toshiyuki, Hayakawa, Chiemi, Miyazaki, Shuji, Matsumoto, Akiko, Kurosawa, Kenji, Nomura, Noriko, Taniguchi, Hiroko, Sonta, Shin-ichi, Yamanaka, Tsutomu, and Wakamatsu, Nobuaki:Human mutation: 11524741 | |
43 | c.397C>T | p.Arg133Cys | Unknown | Rett syndrome-atypical | 1505 | Molecular analysis of Japanese patients with Rett syndrome: identification of five novel mutations and genotype-phenotype correlation:Yamada, Yasukazu, Miura, Kiyokuni, Kumagai, Toshiyuki, Hayakawa, Chiemi, Miyazaki, Shuji, Matsumoto, Akiko, Kurosawa, Kenji, Nomura, Noriko, Taniguchi, Hiroko, Sonta, Shin-ichi, Yamanaka, Tsutomu, and Wakamatsu, Nobuaki:Human mutation: 11524741 | |
44 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-Not certain | 1610 | :Bunyan, D.:: | |
45 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-Not certain | 1624 | :Bunyan, D.:: | |
46 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-Not certain | 1628 | :Bunyan, D.:: | |
47 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-Not certain | 1644 | :Bunyan, D.:: | |
48 | c.397C>T | p.Arg133Cys | Female | Not Known | 1675 | :Friez, Michael:: | |
49 | c.397C>T | p.Arg133Cys | Female | Not Known | 1704 | :Friez, Michael:: | |
50 | c.397C>T | p.Arg133Cys | Female | Not Known | 1708 | :Friez, Michael:: | |
51 | c.397C>T | p.Arg133Cys | Female | Not Known | 1712 | :Friez, Michael:: | |
52 | c.397C>T | p.Arg133Cys | Female | Not Known | 1719 | :Friez, Michael:: | |
53 | c.397C>T | p.Arg133Cys | Female | Not Known | 1725 | :Friez, Michael:: | |
54 | c.397C>T | p.Arg133Cys | Female | Not Known | 1743 | :Friez, Michael:: | |
55 | c.397C>T | p.Arg133Cys | Female | Not Known | 1767 | :Friez, Michael:: | |
56 | c.397C>T | p.Arg133Cys | Female | Not Known | 1770 | :Friez, Michael:: | |
57 | c.397C>T | p.Arg133Cys | Female | Not Known | 1806 | :Friez, Michael:: | |
58 | c.397C>T | p.Arg133Cys | Female | Not Known | 1813 | :Friez, Michael:: | |
59 | c.397C>T | p.Arg133Cys | Female | Not Known | 1816 | :Friez, Michael:: | |
60 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-Not certain | 1869 | :Bunyan, D.:: | |
61 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-classical | 1961 | Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome:Schanen, C., Houwink, EJ., Dorrani, N., Lane, J., Everett, R., Feng, A., Cantor, RM. and Percy, A:American Journal of Medical Genetics: 15057977 | |
62 | c.397C>T | p.Arg133Cys | Male | Mother with slight mental retardation has variation, sister with classical Rett syndrome has variation | Rett syndrome-Classical | 1997 | Classic Rett syndrome in a boy with R133C mutation of MECP2:Tatsuo Masuyama, Muneaki Matsuo, Jin J. Jing, Yasuharu Tabara, Kyoko Kitsuki, Hidehisa Yamagata, Yuka Kan, Tetsuro Miki, Kiyohisa Ishii, Ikuko Kondo:Brain and Development: 16122633 |
63 | c.397C>T | p.Arg133Cys | Female | Not Rett synd. | 1998 | Classic Rett syndrome in a boy with R133C mutation of MECP2:Tatsuo Masuyama, Muneaki Matsuo, Jin J. Jing, Yasuharu Tabara, Kyoko Kitsuki, Hidehisa Yamagata, Yuka Kan, Tetsuro Miki, Kiyohisa Ishii, Ikuko Kondo:Brain and Development: 16122633 | |
64 | c.397C>T | p.Arg133Cys | Female | Mother with slight mental retardation has variation, Rett syndrome brother with normal karyotype and no mosaicism has variation | Rett syndrome-Classical | 1999 | Classic Rett syndrome in a boy with R133C mutation of MECP2:Tatsuo Masuyama, Muneaki Matsuo, Jin J. Jing, Yasuharu Tabara, Kyoko Kitsuki, Hidehisa Yamagata, Yuka Kan, Tetsuro Miki, Kiyohisa Ishii, Ikuko Kondo:Brain and Development: 16122633 |
65 | c.397C>T | p.Arg133Cys | Female | Not Known | 2013 | ::: | |
66 | c.397C>T | p.Arg133Cys | Female | Not Known | 2028 | ::: | |
67 | c.397C>T | p.Arg133Cys | Female | Not Known | 2038 | ::: | |
68 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-Classical | 2208 | :Cardiff, UK:: | |
69 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-Atypical | 2209 | :Cardiff, UK:: | |
70 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-Classical | 2210 | :Cardiff, UK:: | |
71 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-Atypical | 2211 | :Cardiff, UK:: | |
72 | c.397C>T | p.Arg133Cys | Female | Affected atypical Rett twin sister has variation, unaffected mother with totally skewed X-inactivation is mother | Rett syndrome-Atypical | 2212 | :Cardiff, UK:: |
73 | c.397C>T | p.Arg133Cys | Female | Affected atypical Rett twin sister has variation, unaffected mother with totally skewed X-inactivation is mother | Rett syndrome-Atypical | 2213 | :Cardiff, UK:: |
74 | c.397C>T | p.Arg133Cys | Female | Relative of proband | Not Rett synd. | 2214 | :Cardiff, UK:: |
75 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-Classical | 2215 | :Cardiff, UK:: | |
76 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-Atypical | 2216 | :Cardiff, UK:: | |
77 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-Atypical | 2217 | :Cardiff, UK:: | |
78 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-Classical | 2218 | :Cardiff, UK:: | |
79 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-Atypical | 2219 | :Cardiff, UK:: | |
80 | c.397C>T | p.Arg133Cys | Male | Rett syndrome-Atypical | 2220 | :Cardiff, UK:: | |
81 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-Classical | 2221 | :Cardiff, UK:: | |
82 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-Classical | 2222 | :Cardiff, UK:: | |
83 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-Classical | 2223 | :Cardiff, UK:: | |
84 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-Classical | 2224 | :Cardiff, UK:: | |
85 | c.397C>T | p.Arg133Cys | Female | Neither parent is carrier | Rett syndrome-Preserved speech | 2389 | Study of MECP2 Gene in Rett Syndrome Variants and Autistic Girls (See also www.biobank.unisi.it ):Michele Zappella, Ilaria Meloni, Ilaria Longo, Roberto Canitano, Giuseppe Hayek, Lucia Rosaia, Francesca Mari, and Alessandra Renieri:American Journal of Medical Genetics: 12707946 |
86 | c.397C>T | p.Arg133Cys | Female | Researcher claims neither parent has variation | Rett syndrome-Classical | 2399 | Rett syndrome in Spain: mutation analysis and clinical correlations:Monros, E., Armstrong J., Aibar, E., Poo, P., Canós, I., Pineda, M.:Brain and Development: 11738885 |
87 | c.397C>T | p.Arg133Cys | Female | Researcher claims neither parent has variation | Rett syndrome-Classical | 2411 | Rett syndrome in Spain: mutation analysis and clinical correlations:Monros, E., Armstrong J., Aibar, E., Poo, P., Canós, I., Pineda, M.:Brain and Development: 11738885 |
88 | c.397C>T | p.Arg133Cys | Female | Researcher claims neither parent has variation | Rett syndrome-Classical | 2430 | ::: |
89 | c.397C>T | p.Arg133Cys | Female | Researcher claims neither parent has variation | Rett syndrome-Preserved speech | 2447 | Rett syndrome in Spain: mutation analysis and clinical correlations:Monros, E., Armstrong J., Aibar, E., Poo, P., Canós, I., Pineda, M.:Brain and Development: 11738885 |
90 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-Classical | 2475 | ::: | |
91 | c.397C>T | p.Arg133Cys | Female | Researcher claims neither parent has variation | Rett syndrome-Classical | 2482 | ::: |
92 | c.397C>T | p.Arg133Cys | Female | Mother does not have variation, authors chose not to screen unaffected father | Not Rett synd. | 2491 | MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics:Tjitske Kleefstra, Helger G Yntema, Willy M Nillesen, Astrid R Oudakker, Reinier A Mullaart, Niels Geerdink, Hans van Bokhoven, Bert BA de Vries, Erik A Sistermans, Ben CJ Hamel:European Journal of Human Genetics: 14560307 |
93 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-not certain | 2539 | The MECP2 gene mutation screening in Rett Syndrome patients from Croatia:Matijevic, T., Knezeviv, J., Barisic, I., Resic, B., Culic, V., Pavelic, J:Annals New York Academy of Sciences: 17341617 | |
94 | c.397C>T | p.Arg133Cys | Female | parents negative | Rett syndrome-Classical | 2571 | Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578 |
95 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-Classical | 2572 | Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578 | |
96 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-Classical | 2573 | Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578 | |
97 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-Classical | 2574 | Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578 | |
98 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-Classical | 2575 | Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578 | |
99 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-Classical | 2576 | Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578 | |
100 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-classical | 2805 | Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome:Kim, I.-J., Kim, Y.-J., Son, B.-H., Nam, S.-O., Kang, H.-C., Kim, H.-D., Yoo, M.-A., Choi, O.-H., Kim, C.-M.:Experimental and Molecular Medicine: 16672765 | |
101 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-classical | 2806 | Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome:Kim, I.-J., Kim, Y.-J., Son, B.-H., Nam, S.-O., Kang, H.-C., Kim, H.-D., Yoo, M.-A., Choi, O.-H., Kim, C.-M.:Experimental and Molecular Medicine: 16672765 | |
102 | c.397C>T | p.Arg133Cys | Female | de novo | Rett syndrome-classical | 2856 | Mutation analysis of the MECP2 gene in patients with Rett syndrome:Conforti, F.L., Mazzei, R., Magariello, A., Patitucci, A., Gabriele, A.L., Muglia, M., Quattrone, A., Fiumara, A., Barone, R., Pavone, L., Nisticò, R., Mangone, L.:American Journal of Medical Genetics: 12567420 |
103 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-forme fruste | 2868 | Rett syndrome in adolescent and adult females:Smeets, E., Schollen, E., Moog, U., Matthijs, G., Herbergs, J., Smeets, H., Curfs, L., Schrander-Stumpel, C., Fryns, J.P.:American Journal of Medical Genetic: 12966523 | |
104 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-forme fruste | 2869 | Rett syndrome in adolescent and adult females:Smeets, E., Schollen, E., Moog, U., Matthijs, G., Herbergs, J., Smeets, H., Curfs, L., Schrander-Stumpel, C., Fryns, J.P.:American Journal of Medical Genetic: 12966523 | |
105 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-forme fruste | 2870 | Rett syndrome in adolescent and adult females:Smeets, E., Schollen, E., Moog, U., Matthijs, G., Herbergs, J., Smeets, H., Curfs, L., Schrander-Stumpel, C., Fryns, J.P.:American Journal of Medical Genetic: 12966523 | |
106 | c.397C>T | p.Arg133Cys | Female | de novo | Rett syndrome-classical | 2892 | MECP2 mutations in Serbian Rett syndrome patients:Djarmati, A., Dobricic, V., Kecmanovic, M., Marsh, P., Jancic-Stefanovic, J., Klein, C., Djuric, M., Romac, S.:Acta Neurol Scand: 17986102 |
107 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-classical | 2931 | Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome; a cohort of 171 cases:Kammoun, F., de Roux, N, Boespflug-Tanguy, O., Vallée, L, seng, R., Tardieu, M., Landrieu, P.:J Med Genet: 15173251 | |
108 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-classical | 2932 | Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome; a cohort of 171 cases:Kammoun, F., de Roux, N, Boespflug-Tanguy, O., Vallée, L, seng, R., Tardieu, M., Landrieu, P.:J Med Genet: 15173251 | |
109 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-classical | 2933 | Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome; a cohort of 171 cases:Kammoun, F., de Roux, N, Boespflug-Tanguy, O., Vallée, L, seng, R., Tardieu, M., Landrieu, P.:J Med Genet: 15173251 | |
110 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-atypical | 2954 | Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome; a cohort of 171 cases:Kammoun, F., de Roux, N, Boespflug-Tanguy, O., Vallée, L, seng, R., Tardieu, M., Landrieu, P.:J Med Genet: 15173251 | |
111 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-atypical | 2955 | Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome; a cohort of 171 cases:Kammoun, F., de Roux, N, Boespflug-Tanguy, O., Vallée, L, seng, R., Tardieu, M., Landrieu, P.:J Med Genet: 15173251 | |
112 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-classical | 2995 | MECP2 gene mutation analysis in Chinese patients with Rett syndrome:Pan, H., Wang, Y.-P., Bao, X.-H., Meng, H.-D., Zhang, Y., Wu, X.-R-. Shen, Y.:European Journal of Human Genetics: 12111643 | |
113 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-not certain | 3097 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | |
114 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-not certain | 3098 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | |
115 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-not certain | 3099 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | |
116 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-not certain | 3100 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | |
117 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-not certain | 3101 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | |
118 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-not certain | 3102 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | |
119 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-not certain | 3103 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | |
120 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-not certain | 3104 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | |
121 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-not certain | 3105 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | |
122 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-not certain | 3106 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | |
123 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-not certain | 3107 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | |
124 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-not certain | 3108 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | |
125 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-not certain | 3109 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | |
126 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-not certain | 3110 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | |
127 | c.397C>T | p.Arg133Cys | Female | de novo | Rett syndrome-forme fruste | 3366 | MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with X chromosome inactivation patterm:Nielsen JB, Henriksen KF, Hansen C, Silahtaroglu A, Schwartz M, Tommerup N:European Journal of Human Genetics: 11313756 |
128 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-not certain | 3385 | A 77-year-old woman and a preserved speech variant among the Danish Rett patients with mutations in MECP2:Nielsen JB, Ravn K, Schwartz M:Brain & Development: 11738879 | |
129 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-preserved speech | 3393 | Mutation analysis of the methyl-CpG-biding protein 2 gene (MECP2) in Rett patients with preserved speech:Yamashita Y, Kondo I, Fukuda T, Morishima R, Kusaga A, Iwanaga R, Matsuishi T:Brain & Development: 11738864 | |
130 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-preserved speech | 3394 | Mutation analysis of the methyl-CpG-biding protein 2 gene (MECP2) in Rett patients with preserved speech:Yamashita Y, Kondo I, Fukuda T, Morishima R, Kusaga A, Iwanaga R, Matsuishi T:Brain & Development: 11738864 | |
131 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-not certain | 3427 | Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070 | |
132 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-not certain | 3428 | Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070 | |
133 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-not certain | 3429 | Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070 | |
134 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-not certain | 3430 | Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070 | |
135 | c.397C>T | p.Arg133Cys | Female | de novo | Rett syndrome-not certain | 3529 | MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071 |
136 | c.397C>T | p.Arg133Cys | Female | de novo | Rett syndrome-not certain | 3530 | MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071 |
137 | c.397C>T | p.Arg133Cys | Female | de novo | Rett syndrome-not certain | 3531 | MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071 |
138 | c.397C>T | p.Arg133Cys | Female | de novo | Rett syndrome-not certain | 3532 | MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071 |
139 | c.397C>T | p.Arg133Cys | Female | de novo | Rett syndrome-not certain | 3533 | MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071 |
140 | c.397C>T | p.Arg133Cys | Female | de novo | Rett syndrome-not certain | 3534 | MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071 |
141 | c.397C>T | p.Arg133Cys | Female | de novo | Rett syndrome-not certain | 3535 | MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071 |
142 | c.397C>T | p.Arg133Cys | Female | de novo | Rett syndrome-atypical | 3634 | Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 |
143 | c.397C>T | p.Arg133Cys | Female | de novo | Rett syndrome-atypical | 3635 | Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 |
144 | c.397C>T | p.Arg133Cys | Female | de novo | Rett syndrome-atypical | 3636 | Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 |
145 | c.397C>T | p.Arg133Cys | Female | de novo | Rett syndrome-atypical | 3637 | Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 |
146 | c.397C>T | p.Arg133Cys | Female | de novo | Rett syndrome-preserved speech | 3638 | Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 |
147 | c.397C>T | p.Arg133Cys | Female | de novo | Rett syndrome-preserved speech | 3639 | Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 |
148 | c.397C>T | p.Arg133Cys | Female | de novo | Rett syndrome-preserved speech | 3640 | Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 |
149 | c.397C>T | p.Arg133Cys | Female | de novo | Rett syndrome-preserved speech | 3641 | Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 |
150 | c.397C>T | p.Arg133Cys | Female | de novo | Rett syndrome-preserved speech | 3642 | Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 |
151 | c.397C>T | p.Arg133Cys | Female | de novo | Rett syndrome-preserved speech | 3643 | Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 |
152 | c.397C>T | p.Arg133Cys | Female | de novo | Rett syndrome-preserved speech | 3644 | Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 |
153 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-not certain | 3790 | Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome:Inui, K, Akagi M, Ono J, Tsukamoto H, Shimono K, Mano T, Imai K, Yamada M, Muramatsu T, Sakai N, Okada S:Brain & Development: 11376998 | |
154 | c.397C>T | p.Arg133Cys | Female | NK | Rett syndrome-not certain | 4062 | Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860 |
155 | c.397C>T | p.Arg133Cys | Female | Not Known | 4117 | Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578 | |
156 | c.397C>T | p.Arg133Cys | Female | Not Known | 4118 | Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578 | |
157 | c.397C>T | p.Arg133Cys | Female | Not Known | 4119 | Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578 | |
158 | c.397C>T | p.Arg133Cys | Female | Not Known | 4120 | Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578 | |
159 | c.397C>T | p.Arg133Cys | Female | Not Known | 4121 | Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578 | |
160 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-Classical | 4248 | Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030 | |
161 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-not certain | 4314 | Spectrum of MECP2 mutations in New Zealand Rett syndrome patients:Raizis, A.M., Saleem, M., MacKay, R., George, P.M.:New Zealand Medical Journal: 19652677 | |
162 | c.397C>T | p.Arg133Cys | Female | absent in mother | Rett syndrome-Classical | 4359 | Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients:Monnerat, L.S., Moreira, A.D.S., Alves,M.C.V., Bonvicino, C.R., Vargas, F.R.:Brain & Development: 20031356 |
163 | c.397C>T | p.Arg133Cys | Female | absent in mother | Rett syndrome-Atypical | 4360 | Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients:Monnerat, L.S., Moreira, A.D.S., Alves,M.C.V., Bonvicino, C.R., Vargas, F.R.:Brain & Development: 20031356 |
164 | c.397C>T | p.Arg133Cys | Female | absent in mother | Rett syndrome-Classical | 4361 | Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients:Monnerat, L.S., Moreira, A.D.S., Alves,M.C.V., Bonvicino, C.R., Vargas, F.R.:Brain & Development: 20031356 |
165 | c.397C>T | p.Arg133Cys | Female | Not Known | 4429 | :Das, S., Dempsey, M. U. Chicago:: | |
166 | c.397C>T | p.Arg133Cys | Female | Not Known | 4430 | :Das, S., Dempsey, M. U. Chicago:: | |
167 | c.397C>T | p.Arg133Cys | Female | Not Known | 4431 | :Das, S., Dempsey, M. U. Chicago:: | |
168 | c.397C>T | p.Arg133Cys | Female | Not Known | 4432 | :Das, S., Dempsey, M. U. Chicago:: | |
169 | c.397C>T | p.Arg133Cys | Female | Not Known | 4433 | :Das, S., Dempsey, M. U. Chicago:: | |
170 | c.397C>T | p.Arg133Cys | Female | Not Known | 4434 | :Das, S., Dempsey, M. U. Chicago:: | |
171 | c.397C>T | p.Arg133Cys | Female | Not Known | 4435 | :Das, S., Dempsey, M. U. Chicago:: | |
172 | c.397C>T | p.Arg133Cys | Female | Not Known | 4436 | :Das, S., Dempsey, M. U. Chicago:: | |
173 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-not certain | 4732 | Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations:Hadzsiev, K., Polgar, N., Bene, J., Jomlosi, K., Karteszi, J., Hollody, K., Kosztolanyi, G., Renieri, A., Melegh, B.:Journal of Human Genetics: 21160487 | |
174 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-not certain | 4733 | Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations:Hadzsiev, K., Polgar, N., Bene, J., Jomlosi, K., Karteszi, J., Hollody, K., Kosztolanyi, G., Renieri, A., Melegh, B.:Journal of Human Genetics: 21160487 | |
175 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-not certain | 4734 | Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations:Hadzsiev, K., Polgar, N., Bene, J., Jomlosi, K., Karteszi, J., Hollody, K., Kosztolanyi, G., Renieri, A., Melegh, B.:Journal of Human Genetics: 21160487 | |
176 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-not certain | 4735 | Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations:Hadzsiev, K., Polgar, N., Bene, J., Jomlosi, K., Karteszi, J., Hollody, K., Kosztolanyi, G., Renieri, A., Melegh, B.:Journal of Human Genetics: 21160487 | |
177 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-atypical | 4809 | Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutation:Corbani, S., Chouery, E., Fayyad, J., Fawaz, A., El Tourjuman, O., Badens, C., Lacoste, C., Delague, V., Megarbane, A.:Journal of Intellectual Disability Research: 21954873 | |
178 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-classical | 4832 | MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Brain & Development: 21982064 | |
179 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-classical | 4833 | MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Brain & Development: 21982064 | |
180 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-classical | 4834 | MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Brain & Development: 21982064 | |
181 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-classical | 4835 | MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Brain & Development: 21982064 | |
182 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-preserved speech | 4865 | Molecular diagnostic dilemmas in Rett syndrome:Zvereff, V., Carpenter, L., Patton, D., Cabral, H., Rita, D., Wilson, A., Anyane-Yeboa, K., White, L., Friedman, K.J.:Brain & Development: 22277191 | |
183 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-not certain | 4917 | Genetic and epileptic features in Rett syndrome:Kim, H.J., Kim, S.H., Kim, H.D., Lee, J.S., Lee, Y.-M., Koo, K.Y., Lee, J.S., Kang, H.-C.:Yonsei Med J: 22476991 | |
184 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-not certain | 5045 | Spectrum of MECP2 mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations:Das, D.K., Raha, S., Sanghavi, D., Maitra, A., Udani, V.:Gene: 23262346 | |
185 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-not certain | 5046 | Spectrum of MECP2 mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations:Das, D.K., Raha, S., Sanghavi, D., Maitra, A., Udani, V.:Gene: 23262346 | |
186 | c.397C>T | p.Arg133Cys | Female | de novo | Rett syndrome-classical | 5123 | MECP2 gene study in a large cohort testing of 240 female patients and 861 healthy controls (519 females and 342 males):Maortua, H., Martinez-Bouzas, C., Garcia-Ribes, A., Martinez, M.-J., Guillen, E., Domingo, M.-R., Calvo, M.-T., Guitart, M., Gabau, E., Botella, M.-P., Gener, B., Rubio, I., Lopez-Ariztegui, M.-A., Tejada, M.-I.:J Mol Diagn: 23810759 |
187 | c.397C>T | p.Arg133Cys | Female | Mother,Father-Negative | Not Known | 6729 | MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype–phenotype correlations and validation of high-resolution melting analysis for mutation scanning:Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek:Journal of Human Genetics: 26984561 |
188 | c.397C>T | p.Arg133Cys | Female | Mother-negative | Rett syndrome-preserved speech | 6727 | MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype–phenotype correlations and validation of high-resolution melting analysis for mutation scanning:Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek:Journal of Human Genetics: 26984561 |
189 | c.397C>T | p.Arg133Cys | Female | Mother,Father-Negative | Rett syndrome-classical | 6728 | MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype–phenotype correlations and validation of high-resolution melting analysis for mutation scanning:Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek:Journal of Human Genetics: 26984561 |
190 | c.397C>T | p.Arg133Cys | Female | in affected son | Not Rett synd. | 6601 | ::: |
191 | c.397C>T | p.Arg133Cys | Male | inherited from affected mother with mental retardation | Not Rett synd. | 6600 | ::: |
192 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-classical | 6563 | ::: | |
193 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-classical | 6562 | ::: | |
194 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-classical | 6561 | ::: | |
195 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-classical | 6560 | ::: | |
196 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-classical | 6559 | ::: | |
197 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-classical | 6558 | ::: | |
198 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-classical | 6557 | ::: | |
199 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-classical | 6556 | ::: | |
200 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-classical | 6555 | ::: | |
201 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-classical | 6554 | ::: | |
202 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-classical | 6553 | ::: | |
203 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-classical | 6552 | ::: | |
204 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-classical | 6551 | ::: | |
205 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-classical | 6550 | ::: | |
206 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-classical | 6549 | ::: | |
207 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-classical | 6548 | ::: | |
208 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-classical | 6547 | ::: | |
209 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-classical | 6546 | ::: | |
210 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-classical | 6545 | ::: | |
211 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-classical | 6544 | ::: | |
212 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-classical | 6543 | ::: | |
213 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-classical | 6542 | ::: | |
214 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-classical | 6541 | ::: | |
215 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-classical | 6540 | ::: | |
216 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-classical | 6539 | ::: | |
217 | c.397C>T | p.Arg133Cys | Female | Rett syndrome-classical | 6538 | ::: |