No: |
Systematic Name |
Protein name |
Gender |
Carrier result |
Phenotype |
Proband id |
Reference |
1 |
c.1154_1197del44 |
p.Pro385fs |
Unknown |
|
Rett syndrome-Forme fruste |
916 |
::: |
2 |
c.1154_1197del44 |
p.Pro385fs |
Female |
|
Rett syndrome-Classical |
2180 |
:Cardiff, UK:: |
3 |
c.1154_1197del44 |
p.Pro385fs |
Female |
|
Rett syndrome-classical |
2829 |
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 |
4 |
c.1154_1197del44 |
p.Pro385fs |
Female |
|
Rett syndrome-classical |
2950 |
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 |
5 |
c.1154_1197del44 |
p.Pro385fs |
Female |
|
Rett syndrome-classical |
3009 |
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 |
6 |
c.1154_1197del44 |
p.Pro385fs |
Female |
|
Rett syndrome-not certain |
3508 |
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 |