Referenced in: none

Automatically associated channels: Kv7.1

Title: [Mutation analysis of a Chinese family with inherited long QT syndrome]

Authors: Rong Du, Jun-Guo Yang, Wei Li, Le Gui, Guo-hui Yuan, Cai-Lian Kang, Fa-xin Ren, Shou-Yan Zhang

Journal, date & volume: Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2005 Feb , 22, 68-70

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/15696484

Abstract
To identify the mutation of a Chinese family with inherited long QT syndrome(LQTS).The disease-causing gene was tentatively determined in light of the clinical manifestations and electrophysiological properties, and then polymerase chain reaction and DNA sequencing were used for screening and identifying mutation.A missense mutation G940A(G314S) in the KCNQ1 gene was identified, which was the 'hot spot' of long QT syndrome mutation.The mutation that is involved with long QT syndrome in Chinese patients is the same as that in the European, American and Japanese patients.