Maturity-Onset Diabetes of the Young Identified Among Algerian Probands with Early-Onset Diabetes.

ABSTRACT:

Aim

To investigate the prevalence of variants within selected maturity-onset diabetes of the young (MODY)-genes among Algerian patients initially diagnosed with type 1 diabetes (T1D) or type 2 diabetes (T2D), yet presenting with a MODY-like phenotype.

Methods

Eight unrelated patients with early-onset diabetes (before 30 years) and six relatives with diabetes were examined by targeted re-sequencing for variants in genes known to be involved in MODY (HNF1A, GCK, HNF4A, HNF1B, INS, ABCC8, KCNJ1). Clinical data for probands were retrieved from hospital records.

Results

A total of 12 variants were identified, of which three were classified as pathogenic and one as a variant of uncertain clinical significance (VUS). Two of the pathogenic variants were found in GCK

SUBMITTER: Bouldjennet F 

PROVIDER: S-EPMC7733395 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature