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 |
::: |