A new c.1621 C > G, p.R541G lamin A/C mutation in a family with DCM and regional wall motion abnormalities (akinesis/dyskinesis): genotype-phenotype correlation

作者：Malek Lukasz A; Labib Sarah; Mazurkiewicz Lukasz; Saj Michal; Ploski Rafal; Tesson Frederique; Bilinska Zofia T^*

来源：Journal of Human Genetics, 2011, 56(1): 83-86.

DOI：10.1038/jhg.2010.137

• cardiac magnetic resonance
• delayed enhancement
• dilated cardiomyopathy
• lamin
• mutation

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

• 出版日期2011-1