Proband information


Proband id 949
Systematic Name
(NM_004992.3:)
c.1158_1167del10
Protein name
(NP_004983)
p.Pro387fs
Alternate systematic Name
(NM_001110792.1:)
c.1194_1203del10
Alternate Protein name
(NP_001104262)
p.(Pro399Hisfs*19)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296112_153296121del10
Mutation type Frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection
Extent Exons 2-4
Source of DNA
Carrier Y
Carrier result Neither parent has variation
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-Classical
Reference MECP2 mutations account for most cases of typical forms of Rett syndrome:Bienvenu, Thierry, Carrié, Alain, de Roux, Nicolas, Vinet, Marie-Claude, Jonveaux, Philippe, Couvert, Philippe, Villard, Laurent, Arzimanoglou, Alexis, Beldjord, Cherif, Fontes, Michel, Tardieu, Marc and Chelly, Jamel:Human Molecular Genetics: 10814719

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1158_1167del10 p.Pro387fs Female Neither parent has variation Rett syndrome-Classical 949 MECP2 mutations account for most cases of typical forms of Rett syndrome:Bienvenu, Thierry, Carrié, Alain, de Roux, Nicolas, Vinet, Marie-Claude, Jonveaux, Philippe, Couvert, Philippe, Villard, Laurent, Arzimanoglou, Alexis, Beldjord, Cherif, Fontes, Michel, Tardieu, Marc and Chelly, Jamel:Human Molecular Genetics: 10814719
2 c.1158_1167del10 p.Pro387fs Female Rett syndrome-not certain 3303 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