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Analysis of MYH7, MYBPC3 and TNNT2 gene mutations in 10 Chinese pedigrees with familial hypertrophic cardiomyopathy and the correlation between genotype and phenotype / 中华心血管病杂志
Zhonghua xinxueguanbing zazhi ; (12): 202-207, 2006.
Article de Zh | WPRIM | ID: wpr-295346
Bibliothèque responsable: WPRO
ABSTRACT
<p><b>OBJECTIVE</b>The aim of this study was to screen the disease-causing gene mutations and investigate the genotype-phenotype correlation in 10 Chinese pedigrees with familial hypertrophic cardiomyopathy (HCM).</p><p><b>METHODS</b>There are 91 family members from these 10 pedigrees and 5 members were normal mutated carriers, 23 members were HCM patients (14 male) aged from 1.5 to 73 years old. The functional regions of myosin heavy chain gene (MYH7), cardiac myosin-binding protein C (MYBPC3) and cardiac troponin T gene (TNNT2) were screened with PCR and direct sequencing technique. Clinical information from all patients was also evaluated in regard to the genotype.</p><p><b>RESULTS</b>Mutations were found in 5 out of 10 pedigrees. Mutations in MYH7 (Arg663His, Glu924Lys and Ile736Thr) were found in 3 pedigrees and 3 patients from these pedigrees suffered sudden death at age 20-48 years old during sport. Mutations in MYBPC3 were found in 2 pedigrees, 1 with complex mutation (Arg502Trp and splicing mutation IVS27 + 12C > T) and 1 with novel frame shift mutation (Gly347fs) and the latter pedigree has sudden death history. No mutation was identified in TNNT2.</p><p><b>CONCLUSIONS</b>Although the Han Chinese is a relatively homogeneous ethnic group, different HCM gene mutations were responsible for familiar HCM suggesting the heterogeneity nature of the disease-causing genes and HCM MYH7 mutations are associated with a higher risk of sudden death in this cohort. Furthermore, identical mutation might result in different phenotypes suggesting that multiple factors might be involved in the pathogenesis of familiar HCM.</p>
Sujet(s)
Texte intégral: 1 Indice: WPRIM Sujet Principal: Pedigree / Phénotype / Protéines de transport / Chaînes lourdes de myosine / Troponine T / Cardiomyopathie hypertrophique familiale / Myosines cardiaques / Asiatiques / Ethnologie / Génétique Type d'étude: Prognostic_studies Limites du sujet: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male langue: Zh Texte intégral: Zhonghua xinxueguanbing zazhi Année: 2006 Type: Article
Texte intégral: 1 Indice: WPRIM Sujet Principal: Pedigree / Phénotype / Protéines de transport / Chaînes lourdes de myosine / Troponine T / Cardiomyopathie hypertrophique familiale / Myosines cardiaques / Asiatiques / Ethnologie / Génétique Type d'étude: Prognostic_studies Limites du sujet: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male langue: Zh Texte intégral: Zhonghua xinxueguanbing zazhi Année: 2006 Type: Article