A novel hot-spot mutation S236G in the cardiac myosin binding protein C gene in Chinese patient with hypertrophic cardiomyopathy.
- Author:
Hu WANG
1
;
Lei SONG
;
Yu-bao ZOU
;
Ji-zheng WANG
;
Kai SUN
;
Shuo GAO
;
Chan-na ZHANG
;
Ru-tai HUI
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Asian Continental Ancestry Group; genetics; Cardiomyopathy, Hypertrophic; genetics; Carrier Proteins; genetics; Case-Control Studies; DNA; Female; Genome, Human; Humans; Male; Middle Aged; Mutation; Phenotype; Young Adult
- From: Chinese Journal of Cardiology 2009;37(12):1078-1080
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo identify the disease-causing gene mutations and to reveal the relationship between the genotype and the phenotype in Chinese patients with hypertrophic cardiomyopathy (HCM).
METHODSOne 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.
RESULTSA 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.
CONCLUSIONSThe novel S236G mutation in MYBPC3 gene was a hot-spot mutation in Chinese patients with HCM.
