Pedigree Investigation And Genetic Analysis Of Familial Cardiomyopathy And Conduction System Disease In Chinese

Objective Study the clinic features and causative gene of Chinese families with car-diomyopathy and conduction system disease.Methods The study was based on the clinic evaluation of patients from two family members with cardiomyopathy and conduction system disease.Clinic data included patient history, physical examination, 12-lead electrocardiogram, transthoracic echocardiography and ambulatory electrocardiography. Techniques of target exon polymerase chain reaction and DNA direct sequencing were used to screen the mutation in candidate gene in all mem-bers of two families.Results 1. HCM family was characterized by cardiac hypertrophy with conduction abnormity and ventricular preexcitation. A heterozygous point mutation 298(G→A) causing missense G100S mutation was identified in exon 3 of PRKAG2 gene of affected individu-als,but not found in simple hypertrophy cardiomyopathy family and 100 normal people.2. DCM family was characterized by dilated cardiomyopathy and conduction abnormity. A heterozygous point mutation 877(C→T) causing non-sense Q293X mutation was identified in exon 5 of LMNA gene of affected individuals,but not found in 102 sporadic cases and 300 normal people.Conclusion 1. HCM and DCM were inherited in two families which were transmitted as autosomal dominant inheritance. 2. The novel missense mutation G100S in PRKAG2 gene was responsible for Chinese familial cardiac hypertrophy with conduction abnormity and ventricular preexcitation. The novel non-sense mutation Q293X in LMNA gene was responsible for Chinese familial dilated cardiomyopathy and conduction system disease.