Prevalence and distribution of sarcomeric gene mutations in Japanese patients with familial hypertrophic cardiomyopathy.
Circ J
; 76(2): 453-61, 2012.
Article
em En
| MEDLINE
| ID: mdl-22112859
ABSTRACT
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 ANDRESULTS:
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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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Sarcômeros
/
Cardiomiopatia Hipertrófica Familiar
/
Povo Asiático
Tipo de estudo:
Prevalence_studies
/
Prognostic_studies
Limite:
Adult
/
Aged
/
Female
/
Humans
/
Male
/
Middle aged
País/Região como assunto:
Asia
Idioma:
En
Revista:
Circ J
Assunto da revista:
ANGIOLOGIA
/
CARDIOLOGIA
Ano de publicação:
2012
Tipo de documento:
Article
País de afiliação:
Japão