Study of the frequency and clinical features of maturity-onset diabetes in the young in the pediatric and adolescent diabetes population in Iran

• DOI: 10.1515/jpem-2022-0390
• Publication Date: 2022-09-14T01:49:21Z
• Authors: Daniel Zamanfar; Fatemeh Ferdosipour; Pirooz Ebrahimi; Mohamad Moghadam; Mahsa M. Amoli; Mojgan Asadi; Mahila Monajati
• Keywords: Sanger sequencing; HNF1A

Maturity-onset diabetes of the young (MODY), an autosomal dominant disease, is frequently misdiagnosed as type 1 or 2 diabetes. Molecular diagnosis essential to distinguish them. This study was done investigate prevalence MODY subtypes and patients' clinical characteristics.A total 43 out 230 individuals with were selected based on age >6 months, family history diabetes, absence marked obesity, measurable C-peptide. Next-generation direct SANGER sequencing performed screen MODY-related mutations. The variants interpreted using Genome Aggregation Database (genomAD), Clinical Variation (ClinVar), pathogenicity prediction tools.There 23 males (53.5%), mean at 6.7 ± 3.6 years. Sixteen heterozygote single nucleotide variations (SNVs) from 14 patients (14/230, 6%) detected, GCK (37.5%) BLK (18.7%). Two novel identified in HNF4A ABCC8. Half detected categorized likely pathogenic. Most tools predicted Ser28Cys benign Tyr123Phe ABCC8 a pathogenic SNV. Six cases (42.8%) positive SNVs had islet autoantibodies. At diagnosis, age, HbA1c, C-peptide level similar between SNV-positive negative patients.This first investigating Iran. results recommend genetic screening for unusual even without history. Treatment modifies depending associated quality life.