[A novel mutation of the KCNH2 gene in a family with congenital long QT syndrome].
OBJECTIVE
To perform mutation analysis in a family with long QT syndrome.


METHODS
The 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.


RESULTS
A 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.


CONCLUSIONS
A 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.
Department of Cardiology, the Li Hui-li Hospital, Ningbo University, Ningbo, Zhejiang, 315041 P.R.China.
Jiangfang
J
Lian
Jianqing
J
Zhou
Xiaoyan
X
Huang
Ying
Y
Wang
Xi
X
Yang
Di
D
Li
D001483:Base Sequence; D000072237:ERG1 Potassium Channel; D051638:Ether-A-Go-Go Potassium Channels / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D008133:Long QT Syndrome / Q000151:congenital / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D055815:Young Adult
D000072237:ERG1 Potassium Channel; D051638:Ether-A-Go-Go Potassium Channels; C000606913:KCNH2 protein, human