Gene variant analysis of a child presented with neonatal diabetes and multiple organ malformations / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1371-1375, 2020.
Artículo
en Chino
| WPRIM
| ID: wpr-879502
ABSTRACT
OBJECTIVE@#To explore the genetic basis for an infant with neonatal diabetes (NDM) and multiple malformations.@*METHODS@#Genetic variants were detected by next generation sequencing (NGS). Suspected variant was verified by Sanger sequencing.@*RESULTS@#A de novo heterozygous variant, c.1454_1455del(p.K485Rfs), was detected in exon 5 of the GATA6 gene. The variant was undetected in his parents and unreported previously. Bioinformatic analysis predicted the variant to be pathogenic.@*CONCLUSION@#The heterozygous variant of c.1454_1455del(p.K485Rfs) of the GATA6 gene probably underlies the disease in this child. Genetic testing can facilitate diagnosis and genetic counseling for NDM.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Anomalías Múltiples
/
Pruebas Genéticas
/
Eliminación de Secuencia
/
Diabetes Mellitus
/
Secuenciación de Nucleótidos de Alto Rendimiento
/
Heterocigoto
Límite:
Adulto
/
Femenino
/
Humanos
/
Masculino
/
Recién Nacido
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2020
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS