Identification of LAMP2 mutations in early-onset hypertrophic cardiomyopathy by targeted exome sequencing
Journal of Genetic Medicine
;
: 87-91, 2018.
Artigo
em Inglês
| WPRIM
| ID: wpr-719108
ABSTRACT
X-linked dominant mutations in lysosome-associated membrane protein 2 (LAMP2) gene have been shown to be the cause of Danon disease, which is a rare disease associated with clinical triad of cardiomyopathy, skeletal myopathy, and mental retardation. Cardiac involvement is a common manifestation and is the leading cause of death in Danon disease. We report a case of a 24-month-old boy with hemizygous LAMP2 mutation who presented with failure to thrive and early-onset hypertrophic cardiomyopathy. We applied targeted exome sequencing and found a novel hemizygous c.692del variant in exon 5 of the LAMP2 gene, resulting a frameshift mutation p.Thr231Ilefs*11. Our study indicates that target next-generation sequencing can be used as a fast and highly sensitive screening method for inherited cardiomyopathy.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Cardiomiopatia Hipertrófica
/
Programas de Rastreamento
/
Éxons
/
Causas de Morte
/
Mutação da Fase de Leitura
/
Doenças Raras
/
Doença de Depósito de Glicogênio Tipo IIb
/
Proteína 2 de Membrana Associada ao Lisossomo
/
Insuficiência de Crescimento
/
Exoma
Tipo de estudo:
Estudo diagnóstico
/
Estudo de rastreamento
Limite:
Criança, pré-escolar
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Journal of Genetic Medicine
Ano de publicação:
2018
Tipo de documento:
Artigo
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