Absence of a Primary Role for SCN10A Mutations in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy
Te Riele, Anneline S J M; James, Cynthia A; Murray, Brittney; Tichnell, Crystal; Amat-Alarcon, Nuria; Burks, Kathleen; Tandri, Harikrishna; Calkins, Hugh; Polydefkis, Michael; Judge, Daniel P
(2016) Journal of Cardiovascular Translational Research, volume 9, issue 1, pp. 87 - 89
(Article)
Abstract
Prior reports have identified associations between SCN10A and cardiac disorders, such as atrial fibrillation and Brugada syndrome. We evaluated SCN10A in 151 probands with ARVD/C. In this cohort, 10 putatively pathogenic SCN10A variants were identified, including a novel frameshift insertion. Despite a known role for the encoded protein in peripheral
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nerve function, the proband with the frameshift variant had no discernible neurological abnormalities. Arrhythmic phenotypes were not different between those with a rare variant in SCN10A and those without. The prevalence of rare variants in SCN10A was similar among ARVD/C probands with and without a desmosome mutation and similar among healthy Caucasian controls. These results indicate the absence of a primary role for SCN10A mutations in ARVD/C.
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Keywords: Adult, Arrhythmogenic Right Ventricular Dysplasia, Case-Control Studies, DNA Mutational Analysis, Female, Gene Frequency, Genetic Association Studies, Genetic Markers, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Mutation, NAV1.8 Voltage-Gated Sodium Channel, Phenotype, Risk Factors, Young Adult, Letter, Research Support, Non-U.S. Gov't, Letter, Research Support, Non-U.S. Gov't
ISSN: 1937-5387
Publisher: Springer New York
(Peer reviewed)