Analysis of INS gene variant in a juvenile with maturity-onset diabetes of the young type 10
10.3760/cma.j.issn.1003-9406.2020.02.015
- VernacularTitle:一例青少年的成人起病型糖尿病10型患儿的INS基因变异分析
- Author:
Huimin KANG
1
;
Xin FANG
Author Information
1. 福建医科大学附属协和医院儿内科
- Keywords:
Maturity-onset diabetes of the young;
INS gene;
Gene variant
- From:
Chinese Journal of Medical Genetics
2020;37(2):159-161
- CountryChina
- Language:Chinese
-
Abstract:
Objective To analyze INS gene variant in a patient with maturity-onset diabetes of the young type 10.Methods High-throughput sequencing was used to screen for the variants.Suspected variant was verified by Sanger sequencing.Results Genetic testing indicated that the patient and his mother have both carried a heterozygous c.130G＞A (p.Gly44Arg) variant in exon 1 of the INS gene.Prediction of protein structure suggested the variant to be pathogenic.Conclusion The c.130G＞ A (p.Gly44Arg) variant of the INS gene probably underlies the disease in this patient.
