Article
Novel Variant in the ANK2 Membrane-Binding Domain Is Associated With Ankyrin-B Syndrome and Structural Heart Disease in a First Nations Population With a High Rate of Long QT Syndrome.
Circulation. Cardiovascular genetics - 1 Jan 2017
Swayne Leigh Anne, Murphy Nathaniel P, Asuri Sirisha, Chen Lena, Xu Xiaoxue, McIntosh Sarah, Wang Chao, Lancione Peter J, Roberts Jason D, Kerr Charles, Sanatani Shubhayan, Sherwin Elizabeth, Kline Crystal F, Zhang Mingjie, Mohler Peter J, Arbour Laura T
Abstract excerpt
BACKGROUND: Long QT syndrome confers susceptibility to ventricular arrhythmia, predisposing to syncope, seizures, and sudden death. While rare globally, long QT syndrome is ≈15× more common in First Nations of Northern British Columbia largely because of a known mutation in KCNQ1. However, 2 large multigenerational families were affected, but negative for the known mutation. METHODS AND RESULTS: Long QT syndrome...
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