ArticleScientific reports2024
Examining the clinical and genetic spectrum of maturity-onset diabetes of the young (MODY) in Iran.
Article in Scientific reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- Prediction of maturity-onset diabetes of the young subtypes using machine learning.Frontiers in digital health · 2026Article
- Identification of maturity-onset diabetes of the young through targeted next-generation sequencing in Thai patients with atypical diabetes in real-world practice.Frontiers in endocrinology · 2026Article
- Phenotypic and Genetic Diversity in Diabetes Across Populations.The Journal of clinical endocrinology and metabolism · 2025Review
- Utility of type 1 diabetes genetic risk score in a non-European population: insights from an Iranian cohort.Diabetology & metabolic syndrome · 2025Article
- Genetic Structure of Hereditary Forms of Diabetes Mellitus in Russia.International journal of molecular sciences · 2025Article
- Genetic Characterization of MODY in Iranian Families Using Multigenerational-Based Whole-Exome Sequencing Approach.Journal of diabetes research · 2025Article
- The effect of family structure on the still-missing heritability and genomic prediction accuracy of type 2 diabetes.Human genomics · 2024Article
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Authors and funding
18 authors.
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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.
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