Tunisian Maturity-Onset Diabetes of the Young: A Short Review and a New Molecular and Clinical Investigation.

ABSTRACT:

Introduction/aims

Maturity-Onset Diabetes of the Young (MODY) is a monogenic non-autoimmune diabetes with 14 different genetic forms. MODY-related mutations are rarely found in the Tunisian population. Here, we explored MODY related genes sequences among seventeen unrelated Tunisian probands qualifying the MODY clinical criteria.

Materials and methods

The GCK and HNF1A genes were systematically analyzed by direct sequencing in all probands. Then, clinical exome sequencing of 4,813 genes was performed on three unrelated patients. Among them, 130 genes have been reported to be involved in the regulation of glucose metabolism, β-cell development, differentiation and function. All identified variants were analyzed according to their frequencies in the GnomAD databa

SUBMITTER: Moalla M 

PROVIDER: S-EPMC8358796 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature