Absence of a Primary Role for SCN10A Mutations in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

Anneline S J M te Riele, Cynthia Anne James, Brittney Murray, Crystal Tichnell, Nuria Amat-Alarcon, Kathleen Burks, Harikrishna Tandri, Hugh Calkins, Michael J Polydefkis, Daniel P. Judge

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)87-89
Number of pages3
JournalJournal of Cardiovascular Translational Research
Volume9
Issue number1
DOIs
StatePublished - Feb 1 2016

Fingerprint

Arrhythmogenic Right Ventricular Dysplasia
Mutation
Brugada Syndrome
Desmosomes
Peripheral Nerves
Atrial Fibrillation
Phenotype
Proteins

Keywords

  • Arrhythmogenic right ventricular cardiomyopathy
  • SCN10A
  • Sudden cardiac death

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine
  • Genetics
  • Genetics(clinical)
  • Molecular Medicine
  • Pharmaceutical Science

Cite this

Absence of a Primary Role for SCN10A Mutations in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy. / te Riele, Anneline S J M; James, Cynthia Anne; Murray, Brittney; Tichnell, Crystal; Amat-Alarcon, Nuria; Burks, Kathleen; Tandri, Harikrishna; Calkins, Hugh; Polydefkis, Michael J; Judge, Daniel P.

In: Journal of Cardiovascular Translational Research, Vol. 9, No. 1, 01.02.2016, p. 87-89.

Research output: Contribution to journalArticle

te Riele, Anneline S J M ; James, Cynthia Anne ; Murray, Brittney ; Tichnell, Crystal ; Amat-Alarcon, Nuria ; Burks, Kathleen ; Tandri, Harikrishna ; Calkins, Hugh ; Polydefkis, Michael J ; Judge, Daniel P. / Absence of a Primary Role for SCN10A Mutations in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy. In: Journal of Cardiovascular Translational Research. 2016 ; Vol. 9, No. 1. pp. 87-89.
@article{460ef269da184d21b3608da3b848df63,
title = "Absence of a Primary Role for SCN10A Mutations in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy",
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.",
keywords = "Arrhythmogenic right ventricular cardiomyopathy, SCN10A, Sudden cardiac death",
author = "{te Riele}, {Anneline S J M} and James, {Cynthia Anne} and Brittney Murray and Crystal Tichnell and Nuria Amat-Alarcon and Kathleen Burks and Harikrishna Tandri and Hugh Calkins and Polydefkis, {Michael J} and Judge, {Daniel P.}",
year = "2016",
month = "2",
day = "1",
doi = "10.1007/s12265-015-9670-0",
language = "English (US)",
volume = "9",
pages = "87--89",
journal = "Journal of Cardiovascular Translational Research",
issn = "1937-5387",
publisher = "Springer New York",
number = "1",

}

TY - JOUR

T1 - Absence of a Primary Role for SCN10A Mutations in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

AU - te Riele, Anneline S J M

AU - James, Cynthia Anne

AU - Murray, Brittney

AU - Tichnell, Crystal

AU - Amat-Alarcon, Nuria

AU - Burks, Kathleen

AU - Tandri, Harikrishna

AU - Calkins, Hugh

AU - Polydefkis, Michael J

AU - Judge, Daniel P.

PY - 2016/2/1

Y1 - 2016/2/1

N2 - 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.

AB - 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.

KW - Arrhythmogenic right ventricular cardiomyopathy

KW - SCN10A

KW - Sudden cardiac death

UR - http://www.scopus.com/inward/record.url?scp=84959153580&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84959153580&partnerID=8YFLogxK

U2 - 10.1007/s12265-015-9670-0

DO - 10.1007/s12265-015-9670-0

M3 - Article

C2 - 26733327

AN - SCOPUS:84959153580

VL - 9

SP - 87

EP - 89

JO - Journal of Cardiovascular Translational Research

JF - Journal of Cardiovascular Translational Research

SN - 1937-5387

IS - 1

ER -