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Cardiol Young. 2011 Jun;21(3):345-8. doi: 10.1017/S1047951110001927. Epub 2011 Jan 25.

Novel frameshift mutation in Troponin C ( TNNC1) associated with hypertrophic cardiomyopathy and sudden death.

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  • 1Departments of Pediatrics and Medicine, Columbia University Medical Center, 1150 St Nicholas Avenue, New York 10032, USA. wkc15@columbia.edu

Abstract

PurposeHypertrophic cardiomyopathy is the most common cause of sudden death in young people, including trained athletes, and is caused by mutations in genes encoding proteins of the cardiac sarcomere. Mutations in the Troponin C gene (TNNC1) are a rare genetic cause of hypertrophic cardiomyopathy. We describe a novel type of mutation (c.363dupG) in Troponin C, a rare form of hypertrophic cardiomyopathy.

METHODS:

A family in which a 19-year-old asymptomatic male died of sudden cardiac death due to hypertrophic cardiomyopathy was genetically studied by sequencing 17 genes associated with hypertrophic cardiomyopathy or its phenocopies.

RESULTS:

A c.363dupG mutation in Troponin C was identified, and tested across the family.

CONCLUSIONS:

We report the first frameshift mutation (c.363dupG or p.Gln122AlafsX30) in Troponin C causing hypertrophic cardiomyopathy (and sudden cardiac death) in a 19-year-old male, and have demonstrated that the mutation segregates with hypertrophic cardiomyopathy within the family.

PMID:
21262074
[PubMed - indexed for MEDLINE]
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