Identification of insulin gene variants in patients with neonatal diabetes in the Chinese population.

ABSTRACT:

Aims/introduction

Neonatal diabetes mellitus is created by alterations in the genes responsible for beta-cell mass and/or function. The present study aimed to evaluate the genetic variants in the insulin gene (INS) in four Chinese infants aged <12 months with diabetes onset, and to explore the clinical and genetic characteristics of permanent neonatal diabetes mellitus caused by INS mutations.

Materials and methods

The complete coding sequences of KCNJ11, ABCC8 and INS were detected using Sanger sequencing. The pathogenicity of the mutations was determined based on the American College of Medical Genetics and Genomics, and the structure of wild-type and mutant proteins was predicted using the web-based tool, Phyre2.

Results

One novel mutation (p.I99_C100insSI) and thr

SUBMITTER: Fu J 

PROVIDER: S-EPMC7232282 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature