[Novel MYBPC3 mutations in Chinese patients with hypertrophic cardiomyopathy].
OBJECTIVE
To screen the MYBPC3 gene mutations in Han Chinese patients with hypertrophic cardiomyopathy (HCM).


METHODS
Sixty-six patients with HCM were enrolled for the study. The exons in the functional regions of MYBPC3 were amplified with PCR and the products were sequenced.


RESULTS
Four novel mutations and four common polymorphisms were identified in this patient cohort. A Lys301fs mutation in exon10 was evidenced in a H30, and when he was 47 years old, he had the chest tightness, shortness of breath with septal hypertrophy of 18.7mm; a Asp463stop mutation in exon17 was detected in a H48, he was 24 years old 24-year-old when a medical examination showed ventricular septal hypertrophy of 15.4 mm; both Gly523Arg mutation in exon18 and Tyr847His mutation in exon26 were found in a H53 with onset age 36 years old, feeling chest tightness after excise and his ventricular septal hypertrophy was 27 mm that time. MYBPC3 mutations occurred in 4.5% patients in this cohort. These mutations were not found in 100 non-HCM control patients.


CONCLUSIONS
MYBPC3 mutation is presented in a small portion of Han Chinese patients with HCM.
Ma
Zhan-feng
ZF
Department of Cardiology, Peking University People's Hospital, Beijing 100044, China.
Liu
Wen-ling
WL
Hu
Da-yi
DY
Xie
Wen-li
WL
Zhu
Tian-gang
TG
Sun
Yi-hong
YH
Yang
Song-na
SN
Li
Cui-lan
CL
Li
Lei
L
Nie
Xiao-yun
XY
Yang
Jin-gang
JG
Li
Tian-chang
TC
Bian
Hong
H
Tong
Qi-guang
QG
Xiao
Jie
J
Wang
Guo-hong
GH
Cui
Wei
W
Fan
Rui-yun
RY
Li
Yun-tian
YT
D000328:Adult; D044466:Asian People / Q000235:genetics; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D012333:RNA, Messenger / Q000235:genetics; D000099163:Myosin Binding Protein C
D002352:Carrier Proteins; D012333:RNA, Messenger; D000099163:Myosin Binding Protein C