Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 1 de 1
Filtrar
Mais filtros

Base de dados
País/Região como assunto
Ano de publicação
Tipo de documento
Assunto da revista
País de afiliação
Intervalo de ano de publicação
1.
Medicina (Kaunas) ; 55(1)2019 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-30650640

RESUMO

Background and objectives: Dilated cardiomyopathy (DCM) is a rare cardiac disease characterised by left ventricular enlargement, reduced left ventricular contractility, and impaired systolic function. Childhood DCM is clinically and genetically heterogenous and associated with mutations in over 100 genes. The aim of this study was to identify novel variations associated with infantile DCM. Materials and Methods: Targeted next generation sequencing (NGS) of 181 cardiomyopathy-related genes was performed in three unrelated consanguineous families from Saudi Arabia. Variants were confirmed and their frequency established in 50 known DCM cases and 80 clinically annotated healthy controls. Results: The three index cases presented between 7 and 10 months of age with severe DCM. In Family A, there was digenic inheritance of two heterozygous variants: a novel variant in LAMA4 (c.3925G > A, p.Asp1309Asn) and a known DCM mutation in MYH7 (c.2770G > A; p.Glu924Lys). The LAMA4 p.Asp1309Asn variant was predicted to be likely pathogenic according to international guidelines. The other two families had no identifiable potentially deleterious variants. Conclusions: Inheritance of two genetic variants may have a synergistic or dose effect to cause severe DCM. We report of a novel p.Asp1309Asn variation associated with DCM. Targeted NGS is useful in the molecular diagnosis of DCM and to guide whole-family management and counselling.


Assuntos
Miosinas Cardíacas/genética , Cardiomiopatia Dilatada/genética , Laminina/genética , Mutação de Sentido Incorreto , Cadeias Pesadas de Miosina/genética , Doenças Raras/genética , Estudos de Coortes , Ecocardiografia , Feminino , Variação Genética , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Lactente , Saúde do Lactente , Masculino , Linhagem , Arábia Saudita
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA