Variant information


Systematic Name c.631-?_657+?del
Protein name p.?
Mutation type exonic deletion
Domain MBD
Pathogenicity Mutation associated with disease

Proband information


Source of DNA blood
Detection qRT-PCR
Extent exon 4
Number of chromosomes checked 45 chromosomes tested and not found in 45 chromosomes
Carrier status checked Not checked
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: report of one case of MECP2 deletion and one case of MECP2 duplication:Ariani F, Mari F, Pescucci C, Longo I, Bruttini M, Meloni I, Hayek G, Rocchi R, Zappella M, Renieri A:Human Mutation: 15241799

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.631-?_657+?del p.? exonic deletion MBD Mutation associated with disease Female Rett syndrome-classical 3786 Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: report of one case of MECP2 deletion and one case of MECP2 duplication:Ariani F, Mari F, Pescucci C, Longo I, Bruttini M, Meloni I, Hayek G, Rocchi R, Zappella M, Renieri A:Human Mutation: 15241799