Variant information


Systematic Name c.1163_1197del35
Protein name p.Pro388fs
Mutation type Frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA blood
Detection direct
Extent Exons 2-4
Evidence of Pathogenicity
Carrier status checked Yes
Carrier result Variation not found in parents
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Rett syndrome-Not certain
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1163_1197del35 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Female 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 Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Classical 367 :::
3 c.1163_1197del35 p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease 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 frameshift insertion or deletion C-term Mutation associated with disease Female 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 frameshift insertion or deletion C-term Mutation associated with disease 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