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Autosomal Recessive Transmission of MYBPC3 Mutation Results in Malignant Phenotype of Hypertrophic Cardiomyopathy

Wang, Y and Wang, Z and Yang, Q and Zou, Y and Zhang, H and Yan, C and Feng, X and Chen, Y and Zhang, Y and Wang, J and Zhou, X and Ahmad, F and Hui, R and Song, L (2013) Autosomal Recessive Transmission of MYBPC3 Mutation Results in Malignant Phenotype of Hypertrophic Cardiomyopathy. PLoS ONE, 8 (6).

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Abstract

Background: Hypertrophic cardiomyopathy (HCM) due to mutations in genes encoding sarcomere proteins is most commonly inherited as an autosomal dominant trait. Since nearly 50% of HCM cases occur in the absence of a family history, a recessive inheritance pattern may be involved. Methods: A pedigree was identified with suspected autosomal recessive transmission of HCM. Twenty-six HCM-related genes were comprehensively screened for mutations in the proband with targeted second generation sequencing, and the identified mutation was confirmed with bi-directional Sanger sequencing in all family members and 376 healthy controls. Results: A novel missense mutation (c.1469G>T, p.Gly490Val) in exon 17 of MYBPC3 was identified. Two siblings with HCM were homozygous for this mutation, whereas other family members were either heterozygous or wild type. Clinical evaluation showed that both homozygotes manifested a typical HCM presentation, but none of others, including 5 adult heterozygous mutation carriers up to 71 years of age, had any clinical evidence of HCM. Conclusions: Our data identified a MYBPC3 mutation in HCM, which appeared autosomal recessively inherited in this family. The absence of a family history of clinical HCM may be due to not only a de novo mutation, but also recessive mutations that failed to produce a clinical phenotype in heterozygous family members. Therefore, consideration of recessive mutations leading to HCM is essential for risk stratification and genetic counseling. © 2013 Wang et al.

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Details

Item Type: Article
Status: Published
Creators/Authors:
CreatorsEmailPitt UsernameORCID
Wang, Y
Wang, Z
Yang, Q
Zou, Y
Zhang, H
Yan, C
Feng, X
Chen, Y
Zhang, Y
Wang, J
Zhou, X
Ahmad, F
Hui, R
Song, L
Contributors:
ContributionContributors NameEmailPitt UsernameORCID
EditorJanecke, Andreas R.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Date: 28 June 2013
Date Type: Publication
Journal or Publication Title: PLoS ONE
Volume: 8
Number: 6
DOI or Unique Handle: 10.1371/journal.pone.0067087
Schools and Programs: School of Medicine > Medicine
Refereed: Yes
Date Deposited: 15 Jul 2013 20:28
Last Modified: 04 Feb 2019 15:56
URI: http://d-scholarship.pitt.edu/id/eprint/19195

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