A KCNQ1 V205M Missense Mutation Causes a High Rate Of Long QT Syndrome in a First Nations Community of Northern British Columbia: A Community-Based Approach To Understanding the Impact
Articles » Scholarly, peer reviewed
Author/Creator
Laura Arbour
Saman Rezazdeh
Jodene Eldstrom
Gwen Weget-Simms
Rosemarie Rupps
et al.
Genetics In Medicine, vol. 10, no. 7, July 2008, pp. 545-550
Description
Study identified a missense mutation in two index cases from a northern British Columbia Gitxsan First Nation community which likely increases susceptibility to arrhythmias. Twenty relatives were found to carry the same mutation, while 102 relatives were without the mutation. The identification of this mutation allows diagnosis of a predisposition to the syndrome and medical management.