Identification of a novel DGUOK variant in a Chinese family affected with mitochondrial DNA depletion syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 410-414, 2020.
Artigo
em Chinês
| WPRIM
| ID: wpr-828313
ABSTRACT
OBJECTIVE@#To explore the molecular etiology for a Chinese family with mitochondrial DNA depletion syndrome.@*METHODS@#Genomic DNA was extracted from peripheral blood samples of the patient and her parents.Targeted capture and next-generation sequencing was carried out to detect potential variants. Suspected variant was validated by Sanger sequencing.@*RESULTS@#A novel homozygous frameshift variant c.505_508delTATC was identified in the patient, for which both his mother and father were carriers.@*CONCLUSION@#The frameshift variant c.505_508delTATC probably underlies the mitochondrial DNA depletion syndrome in this patient. The result also enriched the variant spectrum of DGUOK gene.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Síndrome
/
DNA Mitocondrial
/
Mutação da Fase de Leitura
/
Fosfotransferases (Aceptor do Grupo Álcool)
/
Povo Asiático
/
Genética
/
Mutação
Tipo de estudo:
Estudo diagnóstico
Limite:
Feminino
/
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2020
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS