Journal
JOURNAL OF HUMAN GENETICS
Volume 56, Issue 1, Pages 83-86Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/jhg.2010.137
Keywords
cardiac magnetic resonance; delayed enhancement; dilated cardiomyopathy; lamin; mutation
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Mutations in the lamin A/C gene (LMNA) are established causes of familial dilated cardiomyopathy (DCM) with atrio-ventricular block although relatively little is known about genotype-phenotype correlations. We describe a 23-year-old patient who presented with inferolateral wall thinning and akinesis with evidence of mid-myocardial fibrosis on cardiac magnetic resonance. Molecular analysis driven by clinical similarities with a previously described case harboring the p.R541C LMNA mutation revealed a novel c.1621 C > G, p.R541G substitution whose pathogenicity was confirmed by transfection of mouse myoblasts. Our results emphasize the role of LMNA mutations at position R541 in DCM cases with segmental LV wall motion akinesis/dyskinesis. Journal of Human Genetics (2011) 56, 83-86; doi:10.1038/jhg.2010.137; published online 18 November 2010
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