Pro731Ser mutation in the β-myosin heavy chain and hypertrophic cardiomyopathy in a Chinese pedigree / 中华心血管病杂志
Chinese Journal of Cardiology
; (12): 571-576, 2014.
Artigo
em Chinês
| WPRIM (Pacífico Ocidental)
| ID: wpr-316409
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To identify the casual mutation of a Chinese pedigree with hypertrophic cardiomyopathy (HCM), and to analyze the genotype-phenotype relationship.</p><p><b>METHODS</b>The coding exons of 26 reported disease genes were sequenced by targeted resequencing in the proband and the identified mutation were detected with bi-directional Sanger sequencing in all family members and 307 healthy controls. The genotype-phenotype correlation was analyzed in the family.</p><p><b>RESULTS</b>A missense mutation (c.2191C > T, p. Pro731Ser) in the 20th exon of MYH7 gene was identified. This mutation was absent in 307 healthy controls and predicted to be pathogenic by PolyPhen-HCM. Totally 13 family members carried this mutation, including 10 patients with HCM and 3 asymptomatic mutation carriers. The proband manifested severe congestive heart failure and 8 patients expressed various clinical manifestations of heart failure, including dyspnea, palpitations, chest pain, amaurosis or syncope. Five patients were diagnosed as HCM at the age of 16 or younger. One family member suffered sudden cardiac death.</p><p><b>CONCLUSIONS</b>The Pro731Ser of MYH7 gene mutation is a causal and malignant mutation linked with familiar HCM.</p>
Texto completo:
Disponível
Contexto em Saúde:
ODS3 - Meta 3.4 Reduzir as mortes prematuras devido doenças não transmissíveis
Problema de saúde:
Doença Cardiovascular
/
Outras Doenças Circulatórias
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Fenótipo
/
Projetos de Pesquisa
/
Cardiomiopatia Hipertrófica
/
Sequência de Bases
/
Éxons
/
Morte Súbita Cardíaca
/
Cadeias Pesadas de Miosina
/
Mutação de Sentido Incorreto
/
Miosinas Ventriculares
Tipo de estudo:
Estudo prognóstico
Limite:
Adolescente
/
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Cardiology
Ano de publicação:
2014
Tipo de documento:
Artigo