No: |
Systematic Name |
Protein name |
Gender |
Carrier result |
Phenotype |
Proband id |
Reference |
1 |
c.1163_1197del35 |
p.Pro388fs |
Female |
Variation not found in parents |
Rett syndrome-Not certain |
126 |
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 |
2 |
c.1163_1197del35 |
p.Pro388fs |
Female |
Mother is not carrier, Father is not carrier |
Rett syndrome-Classical |
367 |
::: |
3 |
c.1163_1197del35 |
p.Pro388fs |
Female |
|
Rett syndrome-not certain |
3311 |
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 |
4 |
c.1163_1197del35 |
p.Pro388fs |
Female |
de novo |
Rett syndrome-atypical |
3747 |
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 |
5 |
c.1163_1197del35 |
p.Pro388fs |
Female |
|
Rett syndrome-not certain |
4712 |
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 |