Hassen Hadj Kacem
Centre de Biotechnologie de Sfax, UAE
Posters & Accepted Abstracts: J Diabetes Metab
In young persons, the prevalence of early-onset type. diabetes has been increased.. low prevalence of this cases present an autosomal dominant inheritance of diabetes which direct us toward the diagnostic of an heterogeneous monogenic form of diabetes. the Maturity Onset Diabetes of the Young (MODY). Here, we investigate the molecular genetics of the MODY in Tunisia by exploring the transmission of the pathology among. Tunisian families selected with strict clinical and familial diagnostic criteria common for all forms of MODY. Patients�?? DNA were analyzed by Next Generation Sequencing (NGS) covering about 5,000 genes including all the genes (13 genes, 122 coding regions) responsible of MODY emergence. Several variants affecting exonic, intronic, and untranslated regions were identified. About 11 variants, with. minor allele frequency (MAF) less than 5% according to ExAC database, were retained. Two rare homozygous variants were detected in GCK (c.777C>T. MAF= 1.6610-05) and ABCC8 (c.2975G>A. MAF= 710- 04) genes. The remaining variants are heterozygous and related to the coding regions o. HNF1-α (c.293C>T), CEL (c.1808G>A, c.1832G>A, c.1841G>A, c.2119A>C, c.1463T>C) an. KCNJ11 (c.808C>G) genes and the intronic regions of PAX4 (c.748-3dupT) and HNF1-β (c.345 -56A>G) genes. In the literature, these variants have never been described associated with MODY. Thereby, the less frequent variant (c.1808G>A (MAF= 8.2210-04), c.2975G>A (MAF= 3.3410-05), c.748-3dupT (MAF= 710-04)) were selected for. further investigation at familial and population levels. This step is important before accomplishing the functional analysis and start the identification of Novel form of MODY.
Email: hkacem@sharjah.ac.ae
