Gene variant analysis of a child presented with neonatal diabetes and multiple organ malformations.
10.3760/cma.j.cn511374-20190814-00409
- Author:
Jing WU
1
;
Ge MENG
;
Binghua DOU
;
Yanlei XU
;
Xiuyong CHENG
;
Haohao ZHANG
;
Jing ZHANG
Author Information
1. Department of Pediatrics, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. wu2006jing@163.com.
- Publication Type:Journal Article
- MeSH:
Abnormalities, Multiple;
Adult;
Diabetes Mellitus/genetics*;
Female;
Genetic Testing;
Heterozygote;
High-Throughput Nucleotide Sequencing;
Humans;
Infant, Newborn;
Male;
Sequence Deletion/genetics*
- From:
Chinese Journal of Medical Genetics
2020;37(12):1371-1375
- CountryChina
- Language:Chinese
-
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.
