Comprehensive genetic screening reveals wide spectrum of genetic variants in monogenic forms of diabetes among Pakistani population.

ABSTRACT:

Background

Monogenic forms of diabetes (MFD) are single gene disorders. Their diagnosis is challenging, and symptoms overlap with type 1 and type 2 diabetes.

Aim

To identify the genetic variants responsible for MFD in the Pakistani population and their frequencies.

Methods

A total of 184 patients suspected of having MFD were enrolled. The inclusion criterion was diabetes with onset below 25 years of age. Brief demographic and clinical information were taken from the participants. The maturity-onset diabetes of the young (MODY) probability score was calculated, and glutamate decarboxylase ELISA was performed. Antibody negative patients and features resembling MODY were selected (n = 28) for exome sequencing to identify the pathogenic variants.

Results

A t

SUBMITTER: Rafique I 

PROVIDER: S-EPMC8613659 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature