ArticleDiabetes2022
Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODY.
Article in Diabetes, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers, 2 of them syntheses that pooled it.
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Who cites it
43 citing papers in PubMed, 2 syntheses or guidelines pooled it, 65 citations in OpenAlex.
- Empirically determined baseline masking strategies and other considerations for gene-level burden tests.Nature genetics · 2026Pooled it
- Clinical and genetic characteristics of maturity-onset diabetes of the young type 13: A systematic review of the literature.Journal of diabetes · 2024Pooled it
- Digenic HNF1A and ABCC8 variants provide mechanistic insight into early-onset diabetes.The Journal of clinical endocrinology and metabolism · 2026Article
- Genetic spectrum and treatment implications of maturity-onset diabetes of the young in the eastern Black Sea region of Türkiye: a combined adult and pediatric cohort of 296 patients with identification of rare and novel variants.Molecular biology reports · 2026Article
- Evaluation of rare NR1D2 variants in MODY-X: clinical, genetic, and in silico insights.Journal of endocrinological investigation · 2026Article
- Insights from maturity-onset diabetes of the young into impaired insulin secretion in type 2 diabetes.Endocrine journal · 2026Review
- The conundrum in diagnosing Maturity-Onset Diabetes of the Young (MODY) in a large German pedigree with early-onset diabetes and a novel HNF1A variant.Molecular and cellular pediatrics · 2026Article
- A worldwide perspective on clinical characteristics and treatment of youth with monogenic diabetes in the SWEET registry.Journal of the Endocrine Society · 2026Article
- 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
- dentification and characterization of novelBMJ open diabetes research & care · 2025Article
- Novel Kruppel-like factor 11 variant of maturity-onset diabetes of the young type 7: A case report.World journal of diabetes · 2025Article
- RareBiomedicines · 2025Article
- Article
- Maturity onset diabetes of the young and beyond: the changing face of single-gene diabetes.European journal of endocrinology · 2025Review
- Molecular and Clinical Profiles of Pediatric Monogenic Diabetes Subtypes: Comprehensive Genetic Analysis of 138 Patients.The Journal of clinical endocrinology and metabolism · 2025Article
- Phenotypic and Genetic Diversity in Diabetes Across Populations.The Journal of clinical endocrinology and metabolism · 2025Review
- Monogenic diabetes: An evidence-based clinical approach.World journal of diabetes · 2025Review
- Clinical Exome Sequencing in Pediatric Patients.Cureus · 2025Article
- Type 1 Diabetes Genetic Risk Contributes to Phenotypic Presentation in Monogenic Autoimmune Diabetes.Diabetes · 2025Article
- Genetic Structure of Hereditary Forms of Diabetes Mellitus in Russia.International journal of molecular sciences · 2025Article
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
Abstract
Maturity-onset diabetes of the young (MODY) is an autosomal dominant form of monogenic diabetes, reported to be caused by variants in 16 genes. Concern has been raised about whether variants in BLK (MODY11), KLF11 (MODY7), and PAX4 (MODY9) cause MODY. We examined variant-level genetic evidence (cosegregation with diabetes and frequency in population) for published putative pathogenic variants in these genes and used burden testing to test gene-level evidence in a MODY cohort (n = 1,227) compared with a control population (UK Biobank [n = 185,898]). For comparison we analyzed well-established causes of MODY, HNF1A, and HNF4A. The published variants in BLK, KLF11, and PAX4 showed poor cosegregation with diabetes (combined logarithm of the odds [LOD] scores ≤1.2), compared with HNF1A and HNF4A (LOD scores >9), and are all too common to cause MODY (minor allele frequency >4.95 × 10-5). Ultra-rare missense and protein-truncating variants (PTV) were not enriched in a MODY cohort compared with the UK Biobank population (PTV P > 0.05, missense P > 0.1 for all three genes) while HNF1A and HNF4A were enriched (P < 10-6). Findings of sensitivity analyses with different population cohorts supported our results. Variant and gene-level genetic evidence does not support BLK, KLF11, or PAX4 as a cause of MODY. They should not be included in MODY diagnostic genetic testing.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.