Key result
Genetic screening of 8 sarcomeric genes in 112 Japanese patients with familial hypertrophic cardiomyopathy identified disease-associated mutations in 43.8% of patients, most frequently in MYBPC3.
Observational (n=112)
Yes
In Japanese patients with familial HCM, mutations in sarcomeric genes were found in 43.8% of probands, with MYBPC3 and MYH7 being the most common and showing regional distribution differences.
May inform genetic testing in Japanese familial HCM; extends sarcomeric mutation prevalence data to Asian cohorts with founder effects noted.
BACKGROUND: Hypertrophic cardiomyopathy (HCM), which is inherited as an autosomal dominant trait, is the most prevalent hereditary cardiac disease. Although there are several reports on the systematic screening of mutations in the disease-causing genes in European and American populations, only limited information is available for Asian populations, including Japanese. METHODS AND RESULTS: Genetic screening of disease-associated mutations in 8 genes for sarcomeric proteins, MYH7, MYBPC3, MYL2, MYL3, TNNT2, TNNI3, TPM1, and ACTC, was performed by direct sequencing in 112 unrelated Japanese proband patients with familial HCM; 37 different mutations, including 13 novel ones in 5 genes, MYH7, MYBPC3, TNNT2, TNNI3, and TPM1, were identified in 49 (43.8%) patients. Among them, 3 carried compound heterozygous mutations in MYBPC3 or TNNT2. The frequency of patients carrying the MYBPC3, MYH7, and TNNT2 mutations were 19.6%, 10.7%, and 8.9%, respectively, and the most frequently affected genes in the northeastern and southwestern parts of Japan were MYBPC3 and MYH7, respectively. Several mutations were found in multiple unrelated proband patients, for which the geographic distribution suggested founder effects of the mutations. CONCLUSIONS: This study demonstrated the frequency and distribution of mutations in a large cohort of familial HCM in Japan.
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Otsuka et al. (2011) conducted an observational in Familial Hypertrophic Cardiomyopathy (n=112). Genetic screening of 8 sarcomeric genes was evaluated on Prevalence of sarcomeric gene mutations. Genetic screening of 8 sarcomeric genes in 112 Japanese patients with familial hypertrophic cardiomyopathy identified disease-associated mutations in 43.8% of patients, most frequently in MYBPC3.
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