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.
Artículo
en Chino
| 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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Oxidorreductasas
/
Diagnóstico Prenatal
/
Secuenciación de Nucleótidos de Alto Rendimiento
/
Errores Innatos del Metabolismo de los Aminoácidos
/
Heterocigoto
/
Mutación
Tipo de estudio:
Estudio diagnóstico
Límite:
Femenino
/
Humanos
/
Embarazo
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2021
Tipo del documento:
Artículo
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