ArticleBMC medical genetics2018
Comprehensive genomic analysis identifies pathogenic variants in maturity-onset diabetes of the young (MODY) patients in South India.
Article in BMC medical genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers, 2 of them syntheses that pooled it.
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Who cites it
49 citing papers in PubMed, 2 syntheses or guidelines pooled it, 97 citations in OpenAlex.
- Pooled it
- Clinical and Genetic Characteristics ofJournal of diabetes research · 2021Pooled it
- Using a modular massively parallel reporter assay to discover context-dependent regulatory activity in type 2 diabetes-linked noncoding regions.HGG advances · 2026Article
- RFX6 expression is central to the development and function of the neuroendocrine compartments of the pancreas and intestine and strongly affects diabetes risk.Diabetology international · 2026Review
- Diverse and rare candidate MODY gene variants were identified in one-fifth of a Bangladeshi cohort with nonobese, nonautoimmune youth-onset diabetes.Scientific reports · 2026Article
- Genomic landscape of Mexican patients with maturity onset diabetes of the young: beyond mutations in MODY-known genes.Frontiers in endocrinology · 2026Article
- Multifaceted functions of transcription regulatory factor X6 (RFX6): from pancreatic development to cancer progression.Cancer cell international · 2025Review
- Phenotypic and Genetic Diversity in Diabetes Across Populations.The Journal of clinical endocrinology and metabolism · 2025Review
- Prevalence and Clinical Characteristics of NEUROD1-MODY in Chinese Early-Onset Type 2 Diabetes Mellitus and a Literature Review.Journal of diabetes · 2025Review
- Rare forms of monogenic diabetes in non-European individuals. First reports of CEL and RFX6 mutations from the Indian subcontinent.Acta diabetologica · 2025Article
- Case Report: Misdiagnosis of Maturity-Onset Diabetes of the Young as type 1, type 2 or gestational diabetes: insights from a Latin American tertiary center.Frontiers in medicine · 2025Article
- Deletion of RFX6 impairs iPSC-derived islet organoid development and survival, with no impact on PDX1Diabetologia · 2024Article
- The Elusive Nature of ABCC8-related Maturity-Onset Diabetes of the Young (ABCC8-MODY). A Review of the Literature and Case Discussion.Current diabetes reports · 2024Review
- Examining the clinical and genetic spectrum of maturity-onset diabetes of the young (MODY) in Iran.Scientific reports · 2024Article
- MODY Only Monogenic? A Narrative Review of theInternational journal of molecular sciences · 2024Review
- RFX6 haploinsufficiency predisposes to diabetes through impaired beta cell function.Diabetologia · 2024Article
- Stress Induced Hyperglycemia in Early Childhood as a Clue for the Diagnosis of NEUROD1-MODYJournal of clinical research in pediatric endocrinology · 2024Article
- The genetic and clinical characteristics of WFS1 related diabetes in Chinese early onset type 2 diabetes.Scientific reports · 2023Article
- Monogenic diabetes.Nature reviews. Disease primers · 2023Review
- From glucose sensing to exocytosis: takes from maturity onset diabetes of the young.Frontiers in endocrinology · 2023Review
Corrections and comments
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Authors and funding
26 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMaturity-onset diabetes of the young (MODY) is an early-onset, autosomal dominant form of non-insulin dependent diabetes. Genetic diagnosis of MODY can transform patient management. Earlier data on the genetic predisposition to MODY have come primarily from familial studies in populations of European origin.
methodsIn this study, we carried out a comprehensive genomic analysis of 289 individuals from India that included 152 clinically diagnosed MODY cases to identify variants in known MODY genes. Further, we have analyzed exome data to identify putative MODY relevant variants in genes previously not implicated in MODY. Functional validation of MODY relevant variants was also performed.
resultsWe found MODY 3 (HNF1A; 7.2%) to be most frequently mutated followed by MODY 12 (ABCC8; 3.3%). They together account for ~ 11% of the cases. In addition to known MODY genes, we report the identification of variants in RFX6, WFS1, AKT2, NKX6-1 that may contribute to development of MODY. Functional assessment of the NKX6-1 variants showed that they are functionally impaired.
conclusionsOur findings showed HNF1A and ABCC8 to be the most frequently mutated MODY genes in south India. Further we provide evidence for additional MODY relevant genes, such as NKX6-1, and these require further validation.
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