Proband information


Proband id 3324
Systematic Name
(NM_004992.3:)		 c.1454_1457del4
Protein name
(NP_004983)		 p.Val485fs
Alternate systematic Name
(NM_001110792.1:)		 c.1490_1493del4
Alternate Protein name
(NP_001104262)		 p.(Val497Alafs*26)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153295822_153295825del4
Mutation type frameshift insertion or deletion
Domain C-term
Pathogenicity Unknown
Evidence of Pathogenicity
Detection SSCP, direct
Extent Exons 2-4
Source of DNA blood
Carrier
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial not known
Phenotype-class Rett syndrome-not certain
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1454_1457del4 p.Val485fs Female Rett syndrome-Not certain 44 MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105
2 c.1454_1457del4 p.Val485fs Female Rett syndrome-not certain 3324 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