Clinical and molecular genetic features of familial dilated cardiomyopathy caused by lamin A/C gene c.16C ＞ T mutation
Li Mengmeng
Zhao Qianqian
Liu Nian
Li Xin
Ruan Yanfei
Bai Rong
Du Xin
Dong Jianzeng
Ma Changsheng
Abstract：Objective To investigate clinical and molecular genetic features of a Chinese pedigree with familial dilated cardiomyopathy(FDCM).Methods One 47 years old female patient with FDCM who was admitted at December 7th,2016 in Beijing Anzhen Hospital,Capital Medical University and her family were included in this study.Clinical data including medical history,physical examination,electrocardiogram and echocardiogram findings were collected,and peripheral venous blood was sampled in all subjects for genetic testing.Two hundred and forty-one genes related to hereditary cardiomyopathy were detected by targeted exon-capture and sequencing technique,and candidate mutations were confirmed by the Sanger bi-directional sequencing.The genotype-phenotype correlation in this pedigree was analyzed.Results First manifestations of the proband were atrial fibrillation and sinus node dysfunction,and she was diagnosed with dilated cardiomyopathy by electrocardiogram,echocardiogram and cardiac magnetic resonance imaging.A c.16C ＞T (p.Q6X) mutation of lamin A/C gene (LMNA) was identified,6 individuals in this family were carriers,4 of them had atrioventricular block and atrial arrhythmia without showing marked cardiac dilatation,1 carrier showed no obvious abnormity in clinical manifestation and auxiliary examination.Conclusions Mutation of c.16C ＞ T in LMNA is related to FDCM and it has a high penetrance in the pedigree with FDCM.The disease is characterized by early performances of conduction defect and atrial arrhythmia.
Keywords：CardiomyopathydilatedNuclear lamina proteinGenotypePhenotype
Publication Date：2018-01-01
Online Publishing Date：2026-09-14(First online date of this platform, not the publication date of the document)
Pages：5( 161-165 )