Proband information


Proband id 4795
Systematic Name
(NM_004992.3:)		 c.[535C>T(;) 763C>T]
Protein name
(NP_004983)		 p.[Pro179Ser(;) Arg255*]
Alternate systematic Name
(NM_001110792.1:)		 c.[571C>T;799C>T]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296744G>A;153296516G>A]
Mutation type missense, nonsense
Domain inter-domain region, TRD
Pathogenicity Unknown
Evidence of Pathogenicity 100 chromosomes tested and not found in 100 chromosomes
Detection direct
Extent all 4 exons
Source of DNA blood
Carrier Y
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 Gender Carrier result Phenotype Proband id Reference
1 c.[535C>T(;) 763C>T] p.[Pro179Ser(;) Arg255*] Female both mutations de novo 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