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Examining the clinical and genetic spectrum of maturity-onset diabetes of the young (MODY) in Iran.
- 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).)
- Subjects :
- Humans
Iran epidemiology
Male
Female
Adult
Adolescent
Hepatocyte Nuclear Factor 1-alpha genetics
Young Adult
Middle Aged
Hepatocyte Nuclear Factor 1-beta genetics
Hepatocyte Nuclear Factor 4 genetics
Child
Pedigree
Mutation
Diabetes Mellitus, Type 2 genetics
Diabetes Mellitus, Type 2 epidemiology
Genetic Predisposition to Disease
Subjects
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