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.
Article
Dans Zh
| WPRIM
| ID: wpr-879502
Responsable en Bibliothèque :
WPRO
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.
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Malformations multiples
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Dépistage génétique
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Délétion de séquence
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Diabète
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Séquençage nucléotidique à haut débit
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Hétérozygote
Limites du sujet:
Adult
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Female
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Humans
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Male
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Newborn
langue:
Zh
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2020
Type:
Article