Variant information


Systematic Name c.1154_1197del44
Protein name p.Pro385fs
Mutation type Frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA Blood or skin
Detection Not known
Extent Exons 2-4 (at least)
Evidence of Pathogenicity
Carrier status checked Not checked
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Rett syndrome-Classical
Reference :Cardiff, UK::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1154_1197del44 p.Pro385fs Frameshift insertion or deletion C-term Mutation associated with disease Unknown Rett syndrome-Forme fruste 916 :::
2 c.1154_1197del44 p.Pro385fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Classical 2180 :Cardiff, UK::
3 c.1154_1197del44 p.Pro385fs frameshift insertion or deletion C-term Mutation associated with disease 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 frameshift insertion or deletion C-term Mutation associated with disease 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 frameshift insertion or deletion C-term Mutation associated with disease 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 frameshift insertion or deletion C-term Mutation associated with disease 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