Examining the Clinical and Genetic Spectrum of Maturity-Onset Diabetes of the Young (Mody) in Iran Publisher Pubmed



Asgarian S¹ ; Lanjanian H¹ ; Rahimipour Anaraki S² ; Hadaegh F³ ; Moazzamjazi M¹ ; Najdhassanbonab L¹ ; Masjoudi S¹ ; Zahedi AS¹ ; Zarkesh M¹ ; Shalbafan B⁴ ; Akbarzadeh M¹ ; Tehrani Fateh S⁵ ; Khalili D³ ; Momenan A³ Show All Authors
Source: Scientific Reports Published:2024

Abstract

Maturity-onset diabetes of the young (MODY) is an uncommon monogenic type of diabetes mellitus. Detecting genetic variants for MODY is a necessity for precise diagnosis and treatment. The majority of MODY genetic predisposition has been documented in European populations and a lack of information is present in Iranians which leads to misdiagnosis as a consequence of defects in unknown variants. In this study, using genetic variant information of 20,002 participants from the family-based TCGS (Tehran Cardiometabolic Genetic Study) cohort, we evaluated the genetic spectrum of MODY in Iran. We concentrated on previously discovered MODY-causing genes. Genetic variants were evaluated for their pathogenicity. We discovered 6 variants that were previously reported in the ClinVar as pathogenic/likely pathogenic (P/LP) for MODY in 45 participants from 24 families (INS in 21 cases, GCK in 13, HNF1B in 8, HNF4A, HNF1A, and CEL in 1 case). One potential MODY variant with Uncertain Risk Allele in ClinVar classification was also identified, which showed complete disease penetrance (100%) in four subjects from one family. This is the first family-based study to define the genetic spectrum and estimate the prevalence of MODY in Iran. The discovered variants need to be investigated by additional studies. © The Author(s) 2024.