[A novel hot-spot mutation S236G in the cardiac myosin binding protein C gene in Chinese patient with hypertrophic cardiomyopathy].
OBJECTIVE
To identify the disease-causing gene mutations and to reveal the relationship between the genotype and the phenotype in Chinese patients with hypertrophic cardiomyopathy (HCM).


METHODS
One hundred unrelated patients with HCM and 120 controls were enrolled in this study. The full encoding exons and flanking sequences of the cardiac myosin binding protein C gene (MYBPC3) were amplified with PCR and the products were sequenced.


RESULTS
A novel missense mutation c.706T > C was identified in exon 6 of MYBPC3 gene in three HCM patients, which resulted a Serine (S) to Glycine (G) exchange at amino acid residue 236 (S236G). The clinical phenotypes of the three patients were different (2 obstructive HCM, 1 non-obstructive HCM). The 120 controls were normal in the genetic test.


CONCLUSIONS
The novel S236G mutation in MYBPC3 gene was a hot-spot mutation in Chinese patients with HCM.
Wang
Hu
H
Sino-German Laboratory for Molecular Medicine, Fu Wai Cardiovascular Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100037, China.
Song
Lei
L
Zou
Yu-bao
YB
Wang
Ji-zheng
JZ
Sun
Kai
K
Gao
Shuo
S
Zhang
Chan-na
CN
Hui
Ru-tai
RT
D000328:Adult; D044466:Asian People / Q000235:genetics; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D016022:Case-Control Studies; D004247:DNA; D005260:Female; D015894:Genome, Human; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D055815:Young Adult; D000099163:Myosin Binding Protein C
D002352:Carrier Proteins; D004247:DNA; D000099163:Myosin Binding Protein C