No: |
Systematic Name |
Protein name |
Gender |
Carrier result |
Phenotype |
Proband id |
Reference |
1 |
c.856_859delAAAG |
p.Lys286fs |
Female |
|
Rett syndrome-Not certain |
35 |
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 |
2 |
c.856_859delAAAG |
p.Lys286fs |
Female |
|
Rett syndrome-Not certain |
1607 |
:Bunyan, D.:: |
3 |
c.856_859delAAAG |
p.Lys286fs |
Female |
|
Rett syndrome-Not certain |
1841 |
:Bunyan, D.:: |
4 |
c.856_859delAAAG |
p.Lys286fs |
Female |
|
Rett syndrome-Atypical |
2104 |
:Cardiff, UK:: |
5 |
c.856_859delAAAG |
p.Lys286fs |
Female |
|
Rett syndrome-Classical |
2501 |
A case of Rett syndrome from Ukraine - clinical diagnosis confirmed by mutation analysis of the MECP2 gene:Bzduch V, Zahorakova D, Grechanina E, Zdibskaja EP, Goldfarb IG, Zeman J, Martasek P:Bratislava Medical Journal: 15633890 |
6 |
c.856_859delAAAG |
p.Lys286fs |
Female |
|
Rett syndrome-Classical |
2610 |
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 |
7 |
c.856_859delAAAG |
p.Lys286fs |
Female |
|
Rett syndrome-not certain |
3279 |
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 |
8 |
c.856_859delAAAG |
p.Lys286fs |
Female |
NK |
Rett syndrome-not certain |
3355 |
Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860 |
9 |
c.856_859delAAAG |
p.Lys286fs |
Female |
|
Rett syndrome-not certain |
3793 |
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 |
10 |
c.856_859delAAAG |
p.Lys286fs |
Female |
|
Rett syndrome-classical |
6630 |
::: |