Proband information



Proband id 424
Systematic Name c.316C>T
Protein name p.Arg106Trp
Mutation type Missense
Domain MBD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity 80 chromosomes tested and not found in 0 chromosomes
Detection dhplc
Extent Exons 2-4
Source of DNA blood
Carrier N
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Sporadic
Phenotype-class Not Known
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id Reference
1 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 6 :Bunyan, D.::
2 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 10 :Bunyan, D.::
3 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 49 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.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 50 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.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 51 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
6 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 52 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
7 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 53 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
8 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 54 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
9 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 55 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
10 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 104 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
11 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Classical 154 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
12 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 191 Mutations in the MECP2 gene in a cohort of girls with Rett syndrome:Hampson, Kim, Woods, C. Geoffrey, Latif, Farida, Webb, Tessa:Journal of Medical Genetics: 10991689
13 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 224 A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients:Bourdon, Violaine, Philippe, Christophe, Labrune, Orianne, Amsallem, Daniel, Arnould, Cécile, Jonveaux, Philippe:Human genetics: 11214906
14 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 225 A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients:Bourdon, Violaine, Philippe, Christophe, Labrune, Orianne, Amsallem, Daniel, Arnould, Cécile, Jonveaux, Philippe:Human genetics: 11214906
15 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 226 A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients:Bourdon, Violaine, Philippe, Christophe, Labrune, Orianne, Amsallem, Daniel, Arnould, Cécile, Jonveaux, Philippe:Human genetics: 11214906
16 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 227 A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients:Bourdon, Violaine, Philippe, Christophe, Labrune, Orianne, Amsallem, Daniel, Arnould, Cécile, Jonveaux, Philippe:Human genetics: 11214906
17 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 262 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
18 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Classical 289 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
19 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Classical 290 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
20 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 368 :::
21 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Classical 370 :::
22 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Not Known 424 :::
23 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 456 :::
24 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Unknown Rett syndrome-Classical 879 :::
25 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 864 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.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 863 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
27 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 846 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
28 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 845 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
29 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Unknown Rett syndrome-Classical 844 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
30 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1027 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
31 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1028 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
32 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1029 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
33 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1145 MeCP2 mutation in non-fatal, non-progressive encephalopathy in a male:Imessaoudene, Belaïd, Bonnefont, Jean-Paul, Royer, Ghislaine, Cormier-Daire, Valérie, Lyonnet, Stanislas, Lyon, Gilles, Munnich, Arnold, Amiel, Jeanne:Journal of Medical Genetics: 11238684
34 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1223 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
35 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1242 Influence of mutation type and location on phenotype in 123 patients with Rett syndrome:Huppke, P., Held, M., Hanefeld, F., Engel, W., Laccone, F.:Neuropediatrics: 12075485
36 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 1273 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.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 1274 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.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 1275 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
39 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 1276 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
40 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 1277 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
41 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 1278 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
42 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1376 Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome:Lam, Ching-Wan, Yeung, Wai-Lan, Ko, Chung-Hung, Poon, Priscilla M K, Tong, Sui-Fan, Chan, Kwok-Yin, Lo, Ivan F M, Chan, Lisa Y S, Hui, Joannie, Wong, Virginia, Pang, Chi-Pui, Lo, Y M Dennis, Fok, Tai-Fai:Journal of Medical Genetics: 11106359
43 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1437 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
44 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1482 Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots:Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., Budden, Sarojini, Naidu, SakkuBai, Pereira, Jose Luiz P., Lo, Ivan F. M., Zoghbi, Huda Y., Schanen, N. Carolyn and Francke, Uta:American Journal of Human Genetics: 10577905
45 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1612 :Bunyan, D.::
46 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1625 :Bunyan, D.::
47 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Not Known 1682 :Friez, Michael::
48 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Not Known 1699 :Friez, Michael::
49 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Not Known 1727 :Friez, Michael::
50 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Not Known 1752 :Friez, Michael::
51 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Not Known 1792 :Friez, Michael::
52 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Not Known 1801 :Friez, Michael::
53 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1878 :::
54 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1879 :::
55 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1880 :::
56 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1881 :::
57 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-classical 1924 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
58 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Not Known 2023 :::
59 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Not Known 2067 :::
60 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2197 :Cardiff, UK::
61 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 2198 :Cardiff, UK::
62 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2199 :Cardiff, UK::
63 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2200 :Cardiff, UK::
64 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2201 :Cardiff, UK::
65 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 2202 :Cardiff, UK::
66 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2203 :Cardiff, UK::
67 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 2204 :Cardiff, UK::
68 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 2205 :Cardiff, UK::
69 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Forme fruste 2419 :::
70 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2438 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
71 c.316C>T p.Arg106Trp Missense MBD Mutation associated with disease Female Rett syndrome-Preserved speech 2470 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
72 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-Classical 2565 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
73 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-Classical 2566 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
74 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-Classical 2567 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
75 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-Classical 2568 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
76 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-Classical 2569 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
77 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-classical 3036 MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome:Yaron Y, Ben Zeev B, Shomrat R, Bercovich D, Naiman T, Orr-Urtreger A:Human Mutation: 12325033
78 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-classical 3037 MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome:Yaron Y, Ben Zeev B, Shomrat R, Bercovich D, Naiman T, Orr-Urtreger A:Human Mutation: 12325033
79 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-not certain 3067 Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation:Giunti L, Pelagatti S, Lazzerini V, Guarducci S, Lapi E, Coviello S, Cecconi A, Ombroni L, Andreucci E, Sani I, Brusaferri A, Lasagni A, Ricotti G, Giometto B, Nicolao P, Gasparini P, Granatiero M, Giovannucci Uzielli ML:Brain & Development: 11738883
80 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-not certain 3087 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
81 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-not certain 3088 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
82 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-not certain 3089 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
83 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-not certain 3090 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
84 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-not certain 3091 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
85 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-not certain 3092 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
86 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-not certain 3093 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
87 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-not certain 3094 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
88 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-classical 3382 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
89 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-classical 3395 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
90 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-not certain 3419 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
91 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-not certain 3420 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
92 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-not certain 3421 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
93 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-not certain 3422 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
94 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-not certain 3423 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
95 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-not certain 3424 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
96 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-not certain 3523 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
97 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-not certain 3524 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
98 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-classical 3628 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
99 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-classical 3629 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
100 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-classical 3630 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
101 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-classical 3803 Rett syndrome: prevalence among Chinese and a comparison of MECP2 mutations of classic Rett syndrome with other neurodevelopmental disorder:Wong, V.C.N., Li, S.Y.H.:Journal of Child Neurology: 18174559
102 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Not Known 4135 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
103 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Not Known 4136 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
104 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Not Known 4137 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
105 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Not Known 4138 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
106 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Not Known 4139 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
107 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-Classical 4227 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
108 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-Classical 4228 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
109 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-Atypical 4229 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
110 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-not certain 4315 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
111 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Not Known 4427 :Das, S., Dempsey, M. U. Chicago::
112 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Not Known 4428 :Das, S., Dempsey, M. U. Chicago::
113 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-not certain 4728 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
114 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-not certain 4729 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
115 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-classical 4808 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
116 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-classical 4828 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
117 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-classical 4829 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
118 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-classical 4830 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
119 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-classical 4831 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
120 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-not certain 4904 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
121 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-not certain 5054 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
122 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Not Rett synd. 6574 :::
123 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-classical 6573 :::
124 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-classical 6572 :::
125 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-classical 6571 :::
126 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-classical 6570 :::
127 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-classical 6569 :::
128 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-classical 6568 :::
129 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-classical 6567 :::
130 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-classical 6566 :::
131 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-classical 6565 :::
132 c.316C>T p.Arg106Trp missense MBD Mutation associated with disease Female Rett syndrome-classical 6564 :::