Hamide Betül GERİK ÇELEBİ, Meliha DEMİRAL

Evaluation of variants in maturity onset of diabetes young related genes in Balıkesir region

Aim: Maturity Onset of Diabetes Young (MODY) is early-onset, monogenic diabetes with an autosomal dominant inheritance pattern. Single gene mutations that cause dysfunction in pancreatic beta cells are responsible for the etiology of MODY. Methods: Between May 2018 and April 2023, a total of 40 pediatric patients (n= 25 females, n= 15 males) with a clinical diagnosis of MODY were evaluated by Targeted Genome Sequencing. Results: Among the 40 pediatric patients included in this study, variants in MODY-associated genes were detected in 21 patients (52.5%), eight (38,09%), of which were pathogenic (38,09%), five (23,8%) were probable pathogenic, and eight (38,09%), were uncertain significance. Conclusion: Using targeted genome sequencing in patients with MODY, our overall diagnostic yield, including pathogenic and possibly pathogenic variants, was 32.5% (13/40). Unlike other similar cohort studies, the MODY12 subtype was the second most frequent. In addition, a total of nine novel variants were reported, including ABCC8 (n=3), CEL (n=2), KLF11 (n=1), GCK (n=1), HNF1A (n=1), and HNF1B (n=1) genes.

Keywords:

MODY, Targeted Genome Sequencing, novel variants ABCC8, KLF11,

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