Genetic Characterization of MODY in Iranian Families Using Multigenerational-Based Whole-Exome Sequencing Approach.

ABSTRACT:

Background

Maturity-onset diabetes of the young (MODY), a common type of monogenic diabetes caused by a pathogenic variant in a single gene, is characterized by starting at an early age, autosomal dominant inheritance, and decreased secretion of insulin. Despite its clinical importance, its accurate diagnosis is challenging, and it is often misdiagnosed as other types of diabetes. Therefore, understanding the genetic basis of MODY can improve diagnostic accuracy.

Methods

We initially performed genetic counseling for 2964 probands who visited the Yazd Diabetes Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran, between 2018 and 2022. Clinical assessments and pedigree analyses were conducted for the accurate clinical diagnosis and management of diabetes. Among

SUBMITTER: Sefid F 

PROVIDER: S-EPMC12767221 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature