Variant information


Systematic Name c.[535C>T(;) 763C>T]
Protein name p.[Pro179Ser(;) Arg255*]
Mutation type missense, nonsense
Domain inter-domain region, TRD
Pathogenicity Unknown

Proband information


Source of DNA blood
Detection direct
Extent all 4 exons
Number of chromosomes checked 100 chromosomes tested and not found in 100 chromosomes
Carrier status checked Yes
Carrier result both mutations de novo
Other mutations Y
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference A case of a Tunisian Rett patient with a novel double-mutation of the MECP2 gene:Fendri-Kriaa, N., Hsairi, I., Kifagi, C., Ellouze, E., Mkaouar-Rebai, E., Triki, C., Fakhfakh, F., Tunisian network on mental retardation study:Biochemical and Biophysical Research Communications: 21575601

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.[535C>T(;) 763C>T] p.[Pro179Ser(;) Arg255*] missense, nonsense inter-domain region, TRD Unknown Female Rett syndrome-classical 4795 A case of a Tunisian Rett patient with a novel double-mutation of the MECP2 gene:Fendri-Kriaa, N., Hsairi, I., Kifagi, C., Ellouze, E., Mkaouar-Rebai, E., Triki, C., Fakhfakh, F., Tunisian network on mental retardation study:Biochemical and Biophysical Research Communications: 21575601