No: |
Systematic Name |
Protein name |
Gender |
Carrier result |
Phenotype |
Proband id |
Reference |
1 |
c.808delC |
p.Arg270fs |
Female |
|
Rett syndrome-Not certain |
2 |
:Bunyan, D.:: |
2 |
c.808delC |
p.Arg270fs |
Female |
|
Rett syndrome-Not certain |
34 |
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 |
3 |
c.808delC |
p.Arg270fs |
Female |
Variation not found in parents |
Rett syndrome-Classical |
189 |
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 |
4 |
c.808delC |
p.Arg270fs |
Female |
|
Rett syndrome-Not certain |
1115 |
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 |
5 |
c.808delC |
p.Arg270fs |
Female |
|
Rett syndrome-Not certain |
1870 |
:Bunyan, D.:: |
6 |
c.808delC |
p.Arg270fs |
Female |
|
Rett syndrome-Classical |
2287 |
:Cardiff, UK:: |
7 |
c.808delC |
p.Arg270fs |
Female |
|
Rett syndrome-Classical |
2288 |
:Cardiff, UK:: |
8 |
c.808delC |
p.Arg270fs |
Male |
de novo |
Not Rett synd. |
2793 |
Early progressive encephalopathy in boys and MECP2 mutations:Kankirawatana, P., Leonard, H., Ellaway, C., Scurlock, J., Mansour, A., Makris, C.M., Dure, L.S., IV, Friez, M., Lane, J., Kiraly-Borri, C., Fabian, V., Davis, M., Jackson, J., Christodoulou, J., Kaufmann, W.E., Ravine, D., Percy, A.K.:Neurology: 16832102 |
9 |
c.808delC |
p.Arg270fs |
Female |
germline mosaicism in father (5% sperm) |
Rett syndrome-not certain |
2797 |
Germline mosaicism for a MECP2 mutation in a man with two Rett daughters:Evans, J.C., Archer, H.L., Whatley, S.D., Clarke, A.:Clinical Genetics: 16965328 |
10 |
c.808delC |
p.Arg270fs |
Female |
germline mosaicism in father (5% sperm) |
Rett syndrome-not certain |
2798 |
Germline mosaicism for a MECP2 mutation in a man with two Rett daughters:Evans, J.C., Archer, H.L., Whatley, S.D., Clarke, A.:Clinical Genetics: 16965328 |
11 |
c.808delC |
p.Arg270fs |
Female |
de novo |
Rett syndrome-classical |
2861 |
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 |
12 |
c.808delC |
p.Arg270fs |
Female |
|
Rett syndrome-atypical |
2968 |
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 |
13 |
c.808delC |
p.Arg270fs |
Female |
|
Rett syndrome-not certain |
3275 |
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 |
14 |
c.808delC |
p.Arg270fs |
Female |
|
Rett syndrome-classical |
3411 |
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 |
15 |
c.808delC |
p.Arg270fs |
Female |
de novo |
Rett syndrome-classical |
3743 |
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 |
16 |
c.808delC |
p.Arg270fs |
Female |
de novo |
Rett syndrome-classical |
3766 |
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 |
17 |
c.808delC |
p.Arg270fs |
Female |
absent in both parents, found in brother with male variant RTT |
Rett syndrome-classical |
4224 |
An explanation for another familial case of Rett syndrome: maternal germline mosaicism:Venancio, M., Santos, M., Pereira, S.A., Maciel, P., Saraiva, J.M.:European Journal of Human Genetics: 17440498 |
18 |
c.808delC |
p.Arg270fs |
Male |
absent in both parents, found in sister with classical RTT |
Rett syndrome-male variant |
4225 |
An explanation for another familial case of Rett syndrome: maternal germline mosaicism:Venancio, M., Santos, M., Pereira, S.A., Maciel, P., Saraiva, J.M.:European Journal of Human Genetics: 17440498 |
19 |
c.808delC |
p.Arg270fs |
Female |
|
Rett syndrome-classical |
6605 |
::: |
20 |
c.808delC |
p.Arg270fs |
Female |
|
Rett syndrome-classical |
6604 |
::: |