Proband information


Proband id 2950
Systematic Name
(NM_004992.3:)		 c.1154_1197del44
Protein name
(NP_004983)		 p.Pro385fs
Alternate systematic Name
(NM_001110792.1:)		 c.1190_1233del44
Alternate Protein name
(NP_001104262)		 p.(Pro397Hisfs*5)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296082_153296125del44
Mutation type frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent exons 2-4
Source of DNA blood
Carrier N
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference 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

Matching entries in the proband database


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