Absence of a Primary Role for SCN10A Mutations in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy |
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Authors: | Anneline S. J. M. te Riele Cynthia A. James Brittney Murray Crystal Tichnell Nuria Amat-Alarcon Kathleen Burks Harikrishna Tandri Hugh Calkins Michael Polydefkis Daniel P. Judge |
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Affiliation: | 1.Department of Medicine/Cardiology, Division of Cardiology,Johns Hopkins University School of Medicine,Baltimore,USA;2.Department of Medicine, Division of Cardiology,University Medical Center Utrecht,Utrecht,The Netherlands;3.Department of Neurology,Johns Hopkins University School of Medicine,Baltimore,USA |
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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 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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