Application and the limitation of next generation sequencing for the diagnosis of methylmalonic acidemia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 740-744, 2021.
Artigo
em Chinês
| WPRIM
| ID: wpr-888384
ABSTRACT
OBJECTIVE@#To identify genetic variants among patients with methylmalonic acidemia and provide genetic evidence for prenatal diagnosis.@*METHODS@#Thirty-one probands and their parents were subjected to next generation sequencing (NGS). Suspected variants were verified by Sanger sequencing.@*RESULTS@#25 probands or their parents were found to harbor previously known pathogenic or likely pathogenic variants, and three probands were found to carry heterozygous MMACHC exonic deletion. The overall diagnostic yield was 90.32%.@*CONCLUSION@#NGS can improve the detection rate for methylmalonic acidemia for its accuracy and efficiency, yet the detection of exonic deletion is required to further improve the diagnostic yield. The identification of specific variants provided evidence for prenatal diagnosis.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Oxirredutases
/
Diagnóstico Pré-Natal
/
Sequenciamento de Nucleotídeos em Larga Escala
/
Erros Inatos do Metabolismo dos Aminoácidos
/
Heterozigoto
/
Mutação
Tipo de estudo:
Estudo diagnóstico
Limite:
Feminino
/
Humanos
/
Gravidez
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2021
Tipo de documento:
Artigo
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