[Gene Variant Analysis of a Child Presented with Neonatal Diabetes and Multiple Organ Malformations].

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.