[A frame shift mutation, Arg346fs mutation, is identified in cardiac myosin-binding protein C gene in a Chinese family with hypertrophic cardiomyopathy].
OBJECTIVE
To explore the disease-causing gene mutation in Chinese with hypertrophic cardiomyopathy (HCM).


METHODS
The peripheral venous blood samples were collected from 5 HCM families without consanguinity, including 5 probands, 2 males and 3 females, 28 sporadic HCM patients, 18 males and 10 females, and 80 healthy controls. The exons in the functional regions of cardiac myosin-binding protein C (MYBPC3) were amplified with PCR and the amplified products were sequenced.


RESULTS
A frame shift mutation-Arg346fs mutation in exon 13, the first mutation identified in Chinese-was discovered in one family with HCM. However, the members of the same HCM family with the Arg346fs mutation showed differences in phenotype and prognosis.


CONCLUSIONS
Cardiac myosin-binding protein C (MYBPC3) may be one of the main disease-causing genes. The heterogeneity of phenotype suggests that multiple factors may be involved in the pathogenesis.
Xie
Wen-li
WL
Department of Cardiology, Second Hospital of Hebei Medical University, Shijiazhuang 050000, China.
Liu
Wen-ling
WL
Hu
Da-yi
DY
Cui
Wei
W
Zhu
Tian-gang
TG
Li
Cui-lan
CL
Sun
Yi-hong
YH
Li
Lei
L
Bian
Hong
H
D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D024741:Cardiomyopathy, Hypertrophic, Familial / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D002681:China / Q000208:ethnology; D004252:DNA Mutational Analysis; D005260:Female; D016368:Frameshift Mutation; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D010375:Pedigree; D000099163:Myosin Binding Protein C
D002352:Carrier Proteins; D000099163:Myosin Binding Protein C