Identification of a novel KCNQ1 mutation associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long QT syndrome in a Chinese family.

BMC Medical Genetics
Su ZhangQ Wang

Abstract

Long QT syndrome (LQTS) is a cardiac disorder characterized by prolonged QT intervals on electrocardiograms (ECG), ventricular arrhythmias, and sudden death. Clinically, two inherited forms of LQTS have been defined: autosomal dominant LQTS or Romano-Ward syndrome (RWS) not associated with deafness and autosomal recessive LQTS or Jervell and Lange-Nielsen syndrome (JLNS) associated with deafness. A Chinese family with both RWS and JLNS was identified. Family members were diagnosed based on the presence of a prolonged QT interval as seen on a 12-lead ECG and a medical history of syncope, palpitation, and deafness. Mutational studies in the KCNQ1 potassium channel gene were performed using direct DNA sequence analysis and restriction length polymorphism analysis. The proband in the Chinese family and her brother had previously been diagnosed with JLNS, and two other members were affected with RWS. The proband was also affected with atrial fibrillation. A single nucleotide substitution of C to T at nucleotide 965 of KCNQ1 was identified, and the mutation resulted in the substitution of a threonine residue at codon 322 by a methionine residue (T322M). The novel heterozygous T322M mutation was identified in two patients with RWS, on...Continue Reading

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Citations

Sep 22, 2012·Herzschrittmachertherapie & Elektrophysiologie·Sven ZumhagenEric Schulze-Bahr
May 26, 2012·Journal of Cardiovascular Disease Research·Yuanfeng GaoDayi Hu
Nov 12, 2013·Indian Heart Journal·Sameera F QureshiPratibha Nallari
Oct 16, 2013·Clinical Genetics·J Y Al-AamaZahurul A Bhuiyan
Dec 10, 2013·Pacing and Clinical Electrophysiology : PACE·Danijel Pravdic
Dec 6, 2014·Biochemical and Biophysical Research Communications·Shovanlal GayenCongBao Kang
Mar 9, 2010·Journal of Biomolecular Screening·Daniel W BeachamGeorge T Hanson

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Methods Mentioned

BETA
PCR

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