title: 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.
abstract: 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.
authors.affiliation: Department of Interventional Cardiology and Angiology, Institute of Cardiology, Warsaw, Poland.
authors.forename: Lukasz A
authors.initials: LA
authors.lastname: Małek
authors.forename: Sarah
authors.initials: S
authors.lastname: Labib
authors.forename: Lukasz
authors.initials: L
authors.lastname: Mazurkiewicz
authors.forename: Michał
authors.initials: M
authors.lastname: Saj
authors.forename: Rafał
authors.initials: R
authors.lastname: Płoski
authors.forename: Frédérique
authors.initials: F
authors.lastname: Tesson
authors.forename: Zofia T
authors.initials: ZT
authors.lastname: Bilińska
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics; D001120:Arginine / Q000235:genetics; D002311:Cardiomyopathy, Dilated / Q000235:genetics; D020820:Dyskinesias / Q000235:genetics*; D005190:Family; D056726:Genetic Association Studies; D005998:Glycine / Q000235:genetics; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000502:physiology; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D035441:Thoracic Wall / Q000002:abnormalities*; D055815:Young Adult
chemical_list: C494847:LMNA protein, human; D034904:Lamin Type A; D001120:Arginine; D005998:Glycine