Journal article
Functional characterization of a novel mutation in NKX2-5 associated with congenital heart disease and adult-onset cardiomyopathy
MW Costa, G Guo, O Wolstein, M Vale, ML Castro, L Wang, R Otway, P Riek, N Cochrane, M Furtado, C Semsarian, RG Weintraub, T Yeoh, C Hayward, A Keogh, P Macdonald, M Feneley, RM Graham, JG Seidman, CE Seidman Show all
Circulation Cardiovascular Genetics | Published : 2013
Abstract
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 coding sequence variants were identified, including 3 nonsynonymous variants. A novel heterozygous mutation, I184M, located within the NKX2-5 homeodomain, was identified in 1 family. A subset of family members had congenital heart disease, but there was an unexpectedly high prevalence of..
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Awarded by National Health and Medical Research Council
Funding Acknowledgements
This work was supported by the Sylvia and Charles Viertel Charitable Foundation, the National Health and Medical Research Council (573732), National Heart Foundation, St. Vincent's Clinic Foundation, Rebecca Cooper Foundation, Fundacao de Amparo a Pesquisa do Estado do Rio de Janeiro, and Howard Hughes Medical Institute. The Australian Regenerative Medicine Institute is supported by the Australian Government and State Government of Victoria. Drs Rosenthal and Harvey hold National Health and Medical Research Council Australian Fellowships (546133 and 573705, respectively). Funding bodies had no role in study design, data collection and analysis, decision to publish, or preparation of the article.