[Gene variant analysis of a child presented with neonatal diabetes and multiple organ malformations]
Jing Wu1, Ge Meng, Binghua Dou
1Department of Pediatrics, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. wu2006jing@163.com.
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.
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