[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.