Analysis of ETFDH gene variation in a Chinese family affected with lipid storage myopathy / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1002-1005, 2019.
Artigo
em Chinês
| WPRIM
| ID: wpr-776757
ABSTRACT
OBJECTIVE@#To detect potential variation in an ethnic Han Chinese family affected with late-onset lipid storage myopathy.@*METHODS@#Next generation sequencing (NGS) was used to screen disease-related genes in the proband. Suspected mutation was validated with PCR and Sanger sequencing in two patients, their father, and 100 healthy controls.@*RESULTS@#Heterozygous c.770A>G (p.Tyr257Cys) and c.1395dupT (p.Gly466Tryfs) mutation were detected in the two patients. Their father was found to be heterozygous for the c.770A>G (p.Tyr257Cys) mutation, while the c.1395dupT (p.Gly466Tryfs) variation was not reported previously and not found among the healthy controls.@*CONCLUSION@#Mutations of the ETFDH gene probably underlie the pathogenesis in this family. The novel c.1395dupT (p.Gly466Tryfs) has enriched the mutation spectrum of EDFDH gene.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Flavoproteínas Transferidoras de Elétrons
/
Povo Asiático
/
Sequenciamento de Nucleotídeos em Larga Escala
/
Oxirredutases atuantes sobre Doadores de Grupo CH-NH
/
Genética
/
Heterozigoto
/
Proteínas Ferro-Enxofre
/
Erros Inatos do Metabolismo Lipídico
/
Distrofias Musculares
/
Mutação
Limite:
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2019
Tipo de documento:
Artigo
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