Variant information


Systematic Name MECP2_e1: c.5C>T
Protein name MeCP2_e1: p.A2V
Mutation type missense
Domain N-term
Pathogenicity Unknown

Proband information


Source of DNA fibroblast
Detection direct
Extent exons 1-4
Number of chromosomes checked 498 chromosomes tested and not found in 498 chromosomes
Carrier status checked Yes
Carrier result de novo
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-not certain
Reference Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome:Saunders, C.J., Minassian, B.E., Chow, E.W.C., Zhao, W., Vincent, J.B.:Am J Med Genet Part A: 19365833

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 MECP2_e1: c.5C>T MeCP2_e1: p.A2V missense N-term Unknown Female Rett syndrome-classical 3864 The first missense mutation causing Rett syndrome specifically affecting the MeCP2_e1 isoform:Fichou, Y., Nectoux, J., Bahi-Buisson, N., Rosas-Vargas, H., Girard, B., Chelly, J., Bienvenu, T.:Neurogenetics: 19034540
2 MECP2_e1: c.5C>T MeCP2_e1: p.A2V missense N-term Unknown Female Rett syndrome-not certain 3867 Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome:Saunders, C.J., Minassian, B.E., Chow, E.W.C., Zhao, W., Vincent, J.B.:Am J Med Genet Part A: 19365833
3 MECP2_e1: c.5C>T MeCP2_e1: p.A2V missense exon 1 Mutation associated with disease Female Rett syndrome-classical 6623 :::
4 MECP2_e1: c.5C>T MeCP2_e1: p.A2V missense exon 1 Mutation associated with disease Female Not Rett synd. 6622 :::