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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References
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This work was performed during Dr. Te Riele’s tenure as the Mark Josephson and Hein Wellens research fellow of the Heart Rhythm Society. The Johns Hopkins ARVD/C Program is supported by the Bogle Foundation, the Healing Hearts Foundation, the Campanella family, the Patrick J. Harrison Family, Dr. Francis P. Chiaramonte Private Foundation, the Thomas Rutherfoord foundation, the Peter French Memorial Foundation, the Wilmerding Endowments, the Dr. Satish, Rupal, and Robin Shah ARVD Fund at Johns Hopkins.
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Editor-in-Chief Jennifer L. Hall oversaw the review of this article
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te Riele, A.S.J.M., James, C.A., Murray, B. et al. Absence of a Primary Role for SCN10A Mutations in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy. J. of Cardiovasc. Trans. Res. 9, 87–89 (2016). https://doi.org/10.1007/s12265-015-9670-0
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DOI: https://doi.org/10.1007/s12265-015-9670-0