Proband information


Proband id 1118
Systematic Name
(NM_004992.3:)		 c.[1161_1166del6; 1180_1205del26]
Protein name
(NP_004983)		 p.[Pro390_Pro391del;Glu394Profs*2]
Alternate systematic Name
(NM_001110792.1:)		 c.[1197_1202del6;1216_1241del26]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296113_153296118del6;153296074_153296099del26]
Mutation type In-frame insertion or deletion, frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection
Extent
Source of DNA
Carrier Y
Carrier result both mutations are de novo, results in Chapleau et al 2014 Am J Med Genet 161A:1638
Other mutations Y
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial
Phenotype-class Rett syndrome-Not certain
Reference Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.[1161_1166del6; 1180_1205del26] p.[Pro390_Pro391del;Glu394Profs*2] Female both mutations are de novo, results in Chapleau et al 2014 Am J Med Genet 161A:1638 Rett syndrome-Not certain 1118 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898