Variant information


Systematic Name Mecp2_e1:c.23_27dup
Protein name p.Ser10Argfs*36
Mutation type frameshift insertion or deletion
Domain N-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA blood
Detection
Extent
Number of chromosomes checked
Carrier status checked Yes
Carrier result denovo,absent in mother and two brothers
Other mutations
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference A rare male patient with classic Rett syndrome caused by MeCP2_e1 mutation:Narumi Tokaji, Hiromichi Ito,Tomohiro Kohmoto, Takuya Naruto, Rizu Takahashi,Aya Goji,Tatsuo Mori, Yoshihiro Toda, Masako Saito, Shoichiro Tange, Kiyoshi Masuda, Shoji Kagami,Issei Imoto:American Journalof Medical genetics: 29341476

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 Mecp2_e1:c.23_27dup p.Ser10Argfs*36 frameshift insertion or deletion N-term Mutation associated with disease Male Rett syndrome-classical 6993 A rare male patient with classic Rett syndrome caused by MeCP2_e1 mutation:Narumi Tokaji, Hiromichi Ito,Tomohiro Kohmoto, Takuya Naruto, Rizu Takahashi,Aya Goji,Tatsuo Mori, Yoshihiro Toda, Masako Saito, Shoichiro Tange, Kiyoshi Masuda, Shoji Kagami,Issei Imoto:American Journalof Medical genetics: 29341476