Absence of a Primary Role for SCN10A Mutations in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy
| Autor: | Brittney Murray, Crystal Tichnell, Anneline S.J.M. te Riele, Cynthia A. James, Hugh Calkins, Daniel P. Judge, Michael Polydefkis, Nuria Amat-Alarcon, Kathleen Burks, Harikrishna Tandri |
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| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
Proband
Adult Genetic Markers Male medicine.medical_specialty Pathology congenital hereditary and neonatal diseases and abnormalities Letter DNA Mutational Analysis Cardiomyopathy Pharmaceutical Science 030204 cardiovascular system & hematology Biology medicine.disease_cause Research Support Article Frameshift mutation Sudden cardiac death NAV1.8 Voltage-Gated Sodium Channel 03 medical and health sciences Young Adult 0302 clinical medicine Gene Frequency Risk Factors Internal medicine Genetics medicine Humans Genetic Predisposition to Disease Non-U.S. Gov't Genetics (clinical) Arrhythmogenic Right Ventricular Dysplasia Genetic Association Studies Brugada syndrome Mutation Research Support Non-U.S. Gov't Case-control study Middle Aged medicine.disease Arrhythmogenic right ventricular dysplasia Phenotype Case-Control Studies Cardiology Molecular Medicine Female Cardiology and Cardiovascular Medicine 030217 neurology & neurosurgery |
| Zdroj: | Journal of Cardiovascular Translational Research, 9(1), 87. Springer New York J Cardiovasc Transl Res |
| ISSN: | 1937-5387 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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