Functional characterization of a novel mutation in NKX2-5 associated with congenital heart disease and adult-onset cardiomyopathy.

doi:10.1161/CIRCGENETICS.113.000057

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Article

Functional characterization of a novel mutation in NKX2-5 associated with congenital heart disease and adult-onset cardiomyopathy.

Circulation. Cardiovascular genetics - 1 Jun 2013

Costa Mauro W, Guo Guanglan, Wolstein Orit, Vale Molly, Castro Maria L, Wang Libin, Otway Robyn, Riek Peter, Cochrane Natalie, Furtado Milena, Semsarian Christopher, Weintraub Robert G, Yeoh Thomas, Hayward Christopher, Keogh Anne, Macdonald Peter, Feneley Michael, Graham Robert M, Seidman Jonathan G, Seidman Christine E, Rosenthal Nadia, Fatkin Diane, Harvey Richard P

Abstract excerpt

BACKGROUND: The transcription factor NKX2-5 is crucial for heart development, and mutations in this gene have been implicated in diverse congenital heart diseases and conduction defects in mouse models and humans. Whether NKX2-5 mutations have a role in adult-onset heart disease is unknown. METHODS AND RESULTS: Mutation screening was performed in 220 probands with adult-onset dilated cardiomyopathy. Six NKX2-5...

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PMID: 23661673
DOI: 10.1161/CIRCGENETICS.113.000057
PMCID: PMC3816146

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