ArticleDiabetologia2008
Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young.
Article in Diabetologia, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01238380 (Using Pharmacogenetics to Improve Treatment in Early-onset Diabetes), which is not on this map. Cited by 160 papers.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Using Pharmacogenetics to Improve Treatment in Early-onset Diabetes
Who cites it
160 citing papers in PubMed, 433 citations in OpenAlex.
- Review
- High prevalence of maturity-onset diabetes of the young in the Czech Republic: A 25-year nationwide registry-based study.Diabetic medicine : a journal of the British Diabetic Association · 2026Article
- KCNJ11 (p.Arg192Cys)-associated MODY13 with coexisting autoimmunity in a child, a case report.BMC pediatrics · 2026Article
- Low prevalence of GCK gene mutations in Chinese patients with gestational diabetes mellitus.Clinics (Sao Paulo, Brazil) · 2026Article
- Prediction of maturity-onset diabetes of the young subtypes using machine learning.Frontiers in digital health · 2026Article
- Case Report: A novel 1, 171 bp GCK promoter/exon 1 deletion in a Chinese pedigree: correcting a misdiagnosis of MODY10 based on an incidental INS variant.Frontiers in endocrinology · 2026Article
- 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
- Development of a Chinese-Specific Clinical Model to Predict Maturity-Onset Diabetes of the Young.Diabetes/metabolism research and reviews · 2025Article
- Article
- Decoding MODY: exploring genetic roots and clinical pathways.Diabetology international · 2025Review
- Article
- Genetic Characterization of MODY in Iranian Families Using Multigenerational-Based Whole-Exome Sequencing Approach.Journal of diabetes research · 2025Article
- Article
- 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
- Screening of Mutations in Maturity-onset Diabetes of the Young-related Genes andJournal of clinical research in pediatric endocrinology · 2024Article
- Clinical characteristics in children with maturity-onset diabetes of the young detected by urine glucose screening at schools in the Tokyo Metropolitan Area.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2024Article
- Mechanism and recent updates on insulin-related disorders.World journal of clinical cases · 2023Review
- Identification of pathogenicMolecular genetics and metabolism reports · 2023Article
100 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
Abstract
aims/hypothesisMutations in the GCK and HNF1A genes are the most common cause of the monogenic forms of diabetes known as 'maturity-onset diabetes of the young'. GCK encodes the glucokinase enzyme, which acts as the pancreatic glucose sensor, and mutations result in stable, mild fasting hyperglycaemia. A progressive insulin secretory defect is seen in patients with mutations in the HNF1A and HNF4A genes encoding the transcription factors hepatocyte nuclear factor-1 alpha and -4 alpha. A molecular genetic diagnosis often changes management, since patients with GCK mutations rarely require pharmacological treatment and HNF1A/4A mutation carriers are sensitive to sulfonylureas. These monogenic forms of diabetes are often misdiagnosed as type 1 or 2 diabetes. Best practice guidelines for genetic testing were developed to guide testing and reporting of results.
methodsA workshop was held to discuss clinical criteria for testing and the interpretation of molecular genetic test results. The participants included 22 clinicians and scientists from 13 countries. Draft best practice guidelines were formulated and edited using an online tool (http://www.coventi.com).
resultsAn agreed set of clinical criteria were defined for the testing of babies, children and adults for GCK, HNF1A and HNF4A mutations. Reporting scenarios were discussed and consensus statements produced. CONCLUSIONS/
interpretationBest practice guidelines have been established for monogenic forms of diabetes caused by mutations in the GCK, HNF1A and HNF4A genes. The guidelines include both diagnostic and predictive genetic tests and interpretation of the results.
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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.