Zhao Bei, Li Juan, Yang Fan, Zhi Guang
Department of Cardiology, Chinese People's Liberation Army General Hospital, Beijing 100853,China.
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2013 Jan;38(1):14-9. doi: 10.3969/j.issn.1672-7347.2013.01.003.
To determine the associated mutations in myosin-binding protein C3 (MYBPC3) in Chinese patients with family hypertrophic cardiomyopathy (FHCM) and to analyze the genotype and phenotype correlation.
One family with 27 family members affected with FHCM was chosen for the study. The full encoding exons of MYBPC3 were amplified with PCR and the products were sequenced. The clinical data and echocardiography were collected.
Two missense mutations in the family were identified: one was C.2526C>G mutation which caused a tyrosine (Tyr) to terminator exchange at amino acid residue 842 and the other was C.2971G>A mutation which resulted in a valine (Val) to methionine (Met) exchange at amino acid residue 991. Four patients in the family suffered from HCM with asymmetric interventricular septal hypertrophy. The left ventricular diastolic function was significantly reduced. Signs of regional diastolic abnormalities occurred in some mutation carriers.
Severe hypertrophy and diastolic dysfunction of the disease are compatible with the presence of double mutations in MYBPC3. Signs of regional diastolic abnormalities suggest a primary response to the mutations of MYBPC3 expression.
