Relationship between congenital long QT syndrome and Brugada syndrome gene mutation.
- Author:
Rong DU
1
;
Fa-xin REN
;
Jun-guo YANG
;
Guo-hui YUAN
;
Shou-yan ZHANG
;
Cai-lian KANG
;
Wei LI
;
Le GUI
;
Jing LI
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Adult; Base Sequence; ERG1 Potassium Channel; Ether-A-Go-Go Potassium Channels; genetics; Female; Humans; Jervell-Lange Nielsen Syndrome; genetics; KCNQ1 Potassium Channel; genetics; Long QT Syndrome; congenital; genetics; Male; Middle Aged; Molecular Sequence Data; Muscle Proteins; genetics; Mutation; NAV1.5 Voltage-Gated Sodium Channel; Pedigree; Potassium Channels, Voltage-Gated; genetics; Romano-Ward Syndrome; genetics; Sodium Channels; genetics
- From: Acta Academiae Medicinae Sinicae 2005;27(3):289-294
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the molecular pathology in families with long QT syndrome (LQTS) including Jervell-Longe-Nielsen syndrome (JLNS) and Romano-ward syndrome (RWS) and Brugada syndrome (BS) in Chinese population.
METHODSPolymerase chain reaction and DNA sequencing were used to screen for KCNQ1, KCNH2, KCNE1, and SCN5A mutation.
RESULTSWe identified a novel mutation N1774S in the SCN5A gene of the BS family, a novel mutation G314S in a RWS family which had also been found in Europe, North America, and Japan, and a single nucleotide polymorphisms (SNPs) G643S in the KCNQ1 of the JLNS family. In this JLNS family, another heterozygous novel mutation in exon 2a was found in KCNQ1 of the patients.
CONCLUSIONNew mutations were found in our experiment, which expand the spectrum of KCNQ1 and SCN5A mutations that cause LQTS and BS.
