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

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

doi:10.1007/s12265-015-9670-0

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

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

School of Medicine

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

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 language	English (US)
Pages (from-to)	87-89
Number of pages	3
Journal	Journal of cardiovascular translational research
Volume	9
Issue number	1
DOIs	https://doi.org/10.1007/s12265-015-9670-0
State	Published - Feb 1 2016

Keywords

Arrhythmogenic right ventricular cardiomyopathy
SCN10A
Sudden cardiac death

ASJC Scopus subject areas

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

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10.1007/s12265-015-9670-0

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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 A.} and Brittney Murray and Crystal Tichnell and Nuria Amat-Alarcon and Kathleen Burks and Harikrishna Tandri and Hugh Calkins and Michael Polydefkis and Judge, {Daniel P.}",

note = "Funding Information: This work was performed during Dr. Te Riele{\textquoteright}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. Publisher Copyright: {\textcopyright} 2016, Springer Science+Business Media New York.",

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doi = "10.1007/s12265-015-9670-0",

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AU - te Riele, Anneline S.J.M.

AU - James, Cynthia A.

AU - Murray, Brittney

AU - Tichnell, Crystal

AU - Amat-Alarcon, Nuria

AU - Burks, Kathleen

AU - Tandri, Harikrishna

AU - Calkins, Hugh

AU - Polydefkis, Michael

AU - Judge, Daniel P.

N1 - Funding Information: 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. Publisher Copyright: © 2016, Springer Science+Business Media New York.

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.

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

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