A novel mutation of the KCNH2 gene in a family with congenital long QT syndrome.
- Author:
Jiangfang LIAN
1
;
Jianqing ZHOU
;
Xiaoyan HUANG
;
Ying WANG
;
Xi YANG
;
Di LI
Author Information
- Publication Type:Journal Article
- MeSH: Base Sequence; ERG1 Potassium Channel; Ether-A-Go-Go Potassium Channels; genetics; Female; Frameshift Mutation; Humans; Long QT Syndrome; congenital; genetics; Male; Molecular Sequence Data; Pedigree; Polymorphism, Single Nucleotide; Young Adult
- From: Chinese Journal of Medical Genetics 2010;27(1):77-80
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo perform mutation analysis in a family with long QT syndrome.
METHODSThe medical record of the affected child and his parents were collected. The locus of gene associated with the long QT syndrome was mapped by linkage analysis. Mutation analysis was done by PCR-single strand conformation polymorphism (SSCP) and direct sequencing.
RESULTSA mutation (L539fs/47) and a SNP (L564L) were found in exon 7 of the KCNH2 gene of the proband. The mutation was from the father.
CONCLUSIONA novel mutation of L539fs/47 in the KCNH2 gene was identified in the LQTS family, which might be the disease-causing mutation for the family.
