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Examining the clinical and genetic spectrum of maturity-onset diabetes of the young (MODY) in Iran.

Authors :
Asgarian S
Lanjanian H
Rahimipour Anaraki S
Hadaegh F
Moazzam-Jazi M
Najd-Hassan-Bonab L
Masjoudi S
Zahedi AS
Zarkesh M
Shalbafan B
Akbarzadeh M
Tehrani Fateh S
Khalili D
Momenan A
Sarbazi N
Hedayati M
Azizi F
Daneshpour MS
Source :
Scientific reports [Sci Rep] 2024 Aug 27; Vol. 14 (1), pp. 19860. Date of Electronic Publication: 2024 Aug 27.
Publication Year :
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.<br /> (© 2024. The Author(s).)

Details

Language :
English
ISSN :
2045-2322
Volume :
14
Issue :
1
Database :
MEDLINE
Journal :
Scientific reports
Publication Type :
Academic Journal
Accession number :
39191897
Full Text :
https://doi.org/10.1038/s41598-024-70864-y