Familiar hypertrophic cardiomyopathy caused by a IVS15-1G > A mutation in cardiac myosin-binding protein C gene / 中华心血管病杂志
Chinese Journal of Cardiology
; (12): 699-702, 2006.
Article
在 Zh
| WPRIM
| ID: wpr-238536
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To detect the disease-causing gene mutation of hypertrophic cardiomyopathy (HCM) in a Chinese family and to analyze the correlation of the genotype and the phenotype.</p><p><b>METHODS</b>One family affected with HCM was studied. The clinical data including symptom, physical examination, echocardiography and electrocardiography were collected. The full encoding exons and flanking sequences of beta-myosin heavy chain gene (MYH7) and cardiac myosin-binding protein C gene (MYBPC3) were amplified with PCR and the products were sequenced.</p><p><b>RESULTS</b>A G8887A mutation, which is an acceptor splicing site of intron 15 (IVS15-1G > A) in MYBPC3 (gi: Y10129) was identified in 6 out of 11 family members. Three mutation carriers developed HCM at 48 - 75 years old with mild chest pain, chest distress and asymmetric septal hypertrophy (13 - 14 mm) and remaining mutation carriers are free of HCM. No mutation was identified in MYH7 gene.</p><p><b>CONCLUSION</b>HCM caused by the IVS15-1G > A mutation is a benign phenotype. It is helpful to screen MYBPC3 gene mutation in late-onset HCM patients with mild symptoms.</p>
全文:
1
索引:
WPRIM
主要主题:
Pedigree
/
Phenotype
/
Carrier Proteins
/
Case-Control Studies
/
Polymerase Chain Reaction
/
Myosin Heavy Chains
/
Cardiomyopathy, Hypertrophic, Familial
/
Cardiac Myosins
/
Genetics
/
Genotype
研究类型:
Observational_studies
限制:
Adult
/
Aged
/
Humans
语言:
Zh
期刊:
Chinese Journal of Cardiology
年:
2006
类型:
Article