A KCNE2 mutation in a patient with cardiac arrhythmia induced by auditory stimuli and serum electrolyte imbalance

Item Type:	Article
Title:	A KCNE2 mutation in a patient with cardiac arrhythmia induced by auditory stimuli and serum electrolyte imbalance
Creators Name:	Gordon, E. and Panaghie, G. and Deng, L. and Bee, K.J. and Roepke, T.K. and Krogh-Madsen, T. and Christini, D.J. and Ostrer, H. and Basson, C.T. and Chung, W. and Abbott, G.W.
Abstract:	Auditory stimulus-induced long QT syndrome (LQTS) is almost exclusively linked to mutations in the hERG potassium channel, which generates the I Kr ventricular repolarization current. Here, a young woman with prior episodes of auditory stimulus-induced syncope presented with LQTS and ventricular fibrillation (VF) with hypomagnesaemia and hypocalcaemia after completing a marathon, followed by subsequent VF with hypokalaemia. The patient was found to harbour a KCNE2 gene mutation encoding a T10M amino acid substitution in MiRP1, an ancillary subunit that co-assembles with and functionally modulates hERG. Other family members with the mutation were asymptomatic, and the proband had no mutations in hERG or other LQTS-linked cardiac ion channel genes. The T10M mutation was absent from 578 unrelated, ethnically matched control chromosomes analysed here and was previously described only once-in an LQTS patient-but not functionally characterized.
Keywords:	HERG, KCNE2, KCNH2, Long QT syndrome, MiRP1, Potassium channel, Animals
Source:	Cardiovascular Research
ISSN:	0008-6363
Publisher:	Oxford University Press
Volume:	77
Number:	1
Page Range:	98-106
Date:	January 2008
Official Publication:	https://doi.org/10.1093/cvr/cvm030
PubMed:	View item in PubMed

Repository Staff Only: item control page