title: A novel mutation of the LMNA gene in a family with dilated cardiomyopathy, conduction system disease, and sudden cardiac death of young females.
abstract: The LMNA gene, which encodes the nuclear envelope protein lamin A/C, is considered to be the most common autosomal disease gene associated with familial dilated cardiomyopathy. To date, each mutation of the LMNA gene has been associated with a specific disease phenotype. Clinical data, family histories, and blood samples were collected from 27 biological members of a family with dilated cardiomyopathy, prominently occurring as heart failure and conduction system disease with a high incidence of sudden cardiac death in young females. Twelve exons of the LMNA gene were screened for nucleotide alterations. A novel insertion mutation (nucleotide 1526insA, amino acid T510Y) in exon nine of the LMNA gene was identified in seven subjects (7/27, 25.9%). This reveals that the LMNA gene insertion mutation (T510Y frameshift mutation) can cause dilated cardiomyopathy, conduction system disease, and sudden cardiac death without skeletal myopathy, clinically manifested with early onset, severe symptoms, and poor prognosis.
authors.affiliation: Department of Cardiovascular Medicine, First Affiliated Hospital of the Medical College of Xi'an Jiaotong University, No. 277 Yanta West Road, Xi'an, 710061, Shaanxi, People's Republic of China.
authors.forename: Wenting
authors.initials: W
authors.lastname: Chen
authors.forename: Jianhua
authors.initials: J
authors.lastname: Huo
authors.forename: Aiqun
authors.initials: A
authors.lastname: Ma
authors.forename: Ling
authors.initials: L
authors.lastname: Bai
authors.forename: Ping
authors.initials: P
authors.lastname: Liu
mesh_terms: D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D001145:Arrhythmias, Cardiac / Q000150:complications* / Q000235:genetics*; D001483:Base Sequence; D053840:Brugada Syndrome; D000075224:Cardiac Conduction System Disease; D002311:Cardiomyopathy, Dilated / Q000150:complications* / Q000235:genetics*; D002648:Child; D016757:Death, Sudden, Cardiac; D005190:Family; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics; D006329:Heart Conduction System / Q000002:abnormalities*; D006579:Heterozygote; D006801:Humans; D034904:Lamin Type A / Q000737:chemistry / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D055815:Young Adult
chemical_list: C494847:LMNA protein, human; D034904:Lamin Type A