Familiar hypertrophic cardiomyopathy caused by a IVS15-1G > A mutation in cardiac myosin-binding protein C gene

Yu bao Zou, Ji zheng Wang, Geru Wu, Lei Song, Shu xia Wang, Hui Yu, Qian Zhang, H. Wang, Ru tai Hui

Research output: Contribution to journalArticle

Abstract

OBJECTIVE: 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. METHODS: 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. RESULTS: 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. CONCLUSION: 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.

Original languageEnglish (US)
Pages (from-to)699-702
Number of pages4
JournalZhonghua xin xue guan bing za zhi [Chinese journal of cardiovascular diseases]
Volume34
Issue number8
StatePublished - Aug 1 2006
Externally publishedYes

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

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    Zou, Y. B., Wang, J. Z., Wu, G., Song, L., Wang, S. X., Yu, H., Zhang, Q., Wang, H., & Hui, R. T. (2006). Familiar hypertrophic cardiomyopathy caused by a IVS15-1G > A mutation in cardiac myosin-binding protein C gene. Zhonghua xin xue guan bing za zhi [Chinese journal of cardiovascular diseases], 34(8), 699-702.