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 blood
Detection DHPLC
Extent all exons
Number of chromosomes checked 300 chromosomes tested and not found in 300 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-classical
Reference 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

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 :::