A Mutation in the Insulin Receptor Substrate 2 Gene May Be Associated with Maturity-onset Diabetes of the Young: a Case Report with Genetic Analysis

Abstract

Maturity-onset diabetes of the young (MODY) belongs to a kind of monogenic diabetes characterized by pancreatic β-cell dysfunction and high level of genetic heterogeneity. As of August 2022, 14 genes responsible for MODY have been identified clearly. In this paper, a case of suspected MODY was reported. A mutation in the insulin receptor substrate 2 (IRS2) gene was identified by exome sequencing, and also found in 11 family members of the patient. It is proposed that IRS2 gene may be a new candidate gene for MODY, informing the diagnosis and treatment of MODY.

Keywords

• diabetes mellitus|maturity-onset diabetes of the young|insulin receptor substrate 2|peroxisome proliferator activated receptor|gene mutation|gene diagnosis|pedigree analysis