Frontiers of Medicine in China

, Volume 1, Issue 3, pp 312–315

Mutation analysis of KCNQ1, KCNH2, SCN5A, KCNE1 and KCNE2 genes in Chinese patients with long QT syndrome

  • Du Rong 
  • Tian Li 
  • Yuan Guohui 
  • Li Jin 
  • Ren Faxin 
  • Gui Le 
  • Li Wei 
  • Zhang Shouyan 
  • Kang Cailian 
  • Yang Junguo 
Research Article

DOI: 10.1007/s11684-007-0060-0

Cite this article as:
Du, R., Tian, L., Yuan, G. et al. Front. Med. China (2007) 1: 312. doi:10.1007/s11684-007-0060-0
  • 121 Downloads

Abstract

Long QT syndrome (LQTS) is the prototype of the cardiac ion channelopathies, which cause syncope and sudden death. Inherited LQTS is represented by the autosomal dominant Romano-ward syndrome (RWS), which is not accompanied by congenital deafness, and the autosomal recessive Jervell and Lange-Nielsen syndrome (JLNS), which is accompanied by congenital deafness. The LQTS-causing mutations have been reported in patients and families from Europe, North America and Japan. Few genetic studies have been carried out in families with JLNS from China. This study investigates the molecular pathology in four families with LQTS (including a family with JLNS) in the Chinese population. Polymerase chain reaction and DNA sequencing were used to screen for KCNQ1, KCNH2, KCNE1, KCNE2 and SCN5A mutation. A missense mutation G314S in an RWS family was identified, and a single nucleotide polymorphism (SNP) G643S was indentified 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. Our data provide useful information for the identification of polymorphisms and mutations related to LQTS and the Brugada Syndrome (BS) in Chinese populations.

Keywords

Long QT syndrome mutation KCNQ1 Lange-Nielsen syndrome Romano-ward syndrome 

Copyright information

© Higher Education Press and Springer-Verlag 2007

Authors and Affiliations

  • Du Rong 
    • 1
  • Tian Li 
    • 2
  • Yuan Guohui 
    • 2
  • Li Jin 
    • 2
  • Ren Faxin 
    • 2
  • Gui Le 
    • 2
  • Li Wei 
    • 2
  • Zhang Shouyan 
    • 2
  • Kang Cailian 
    • 2
  • Yang Junguo 
    • 2
  1. 1.Department of Rheumatology, Union Hospital, Tongji Medical CollegeHuazhong University of Science and TechnologyWuhanChina
  2. 2.Department of Cardiology, Union Hospital, Tongji Medical CollegeHuazhong University of Science and TechnologyWuhanChina

Personalised recommendations