ArticleDiabetologia2005
Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4alpha mutations in a large European collection.
Article in Diabetologia, 2005. 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 100 papers.
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Using Pharmacogenetics to Improve Treatment in Early-onset Diabetes
Who cites it
100 citing papers in PubMed, 231 citations in OpenAlex.
- Beta cell function and insulin sensitivity in obese youth with maturity onset diabetes of youth mutations vs type 2 diabetes in TODAY: Longitudinal observations and glycemic failure.Pediatric diabetes · 2020 · on this mapTrial
- Monogenic diabetes in overweight and obese youth diagnosed with type 2 diabetes: the TODAY clinical trial.Genetics in medicine : official journal of the American College of Medical Genetics · 2018 · on this mapTrial
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- Syndromic diabetes and hypergonadotropic hypogonadism in a boy with a 12q24.31-32 chromosomal deletion involvingClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2026Article
- Maturity Onset Diabetes of the Young (MODY): French National Diagnosis and Care Protocol (PNDS, Protocole National de Diagnostic et de Soins).Orphanet journal of rare diseases · 2026Review
- Sulphonylurea efficacy and end-organ outcomes in the management of HNF4A-MODY.Diabetic medicine : a journal of the British Diabetic Association · 2025Article
- Genetics Evaluation Outcomes From an Academic Multidisciplinary Atypical Diabetes Program.Journal of the Endocrine Society · 2025Article
- Molecular and Clinical Profiles of Pediatric Monogenic Diabetes Subtypes: Comprehensive Genetic Analysis of 138 Patients.The Journal of clinical endocrinology and metabolism · 2025Article
- Emerging phenotype: Maturity-onset diabetes of the young type 5 (MODY-5) - mechanisms, clinical spectrum, and unmet needs.Diabetology & metabolic syndrome · 2025Review
- Monogenic diabetes: An evidence-based clinical approach.World journal of diabetes · 2025Review
- Unraveling the genetic basis of MODY: insights from next-generation sequencing.Journal of applied genetics · 2025Article
- Decoding MODY: exploring genetic roots and clinical pathways.Diabetology international · 2025Review
- Distinct Roles of Common Genetic Variants and Their Contributions to Diabetes: MODY and Uncontrolled T2DM.Biomolecules · 2025Review
- Case Report: Beyond type 1 diabetes: a case of delayed MODY1 diagnosis and successful transition to sulfonylurea therapy.Frontiers in medicine · 2025Article
- Case Report: long-term misdiagnosis and follow-up of a patient withFrontiers in endocrinology · 2025Article
- Gliclazide Challenge Testing as an Alternative Diagnostic Tool for Hepatocyte Nuclear Factor-1-Alpha Maturity Onset Diabetes of the Young.European journal of case reports in internal medicine · 2025Article
- The MODY-associatedeLife · 2024Article
- Implementing genetic testing in diabetes: Knowledge, perceptions of healthcare professionals, and barriers in a developing country.Population medicine · 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
- The roles of nuclear receptors in cholesterol metabolism and reverse cholesterol transport in nonalcoholic fatty liver disease.Hepatology communications · 2024Review
40 more citing papers are in PubMed but not listed here.
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Authors and funding
13 authors at 6 institutions in 4 countries.
Funding
Abstract
aims/hypothesisHeterozygous mutations in the gene of the transcription factor hepatocyte nuclear factor 4alpha (HNF-4alpha) are considered a rare cause of MODY with only 14 mutations reported to date. The description of the phenotype is limited to single families. We investigated the genetics and phenotype of HNF-4alpha mutations in a large European Caucasian collection.
methodsHNF-4alpha was sequenced in 48 MODY probands, selected for a phenotype of HNF-1alpha MODY but negative for HNF-1alpha mutations. Clinical characteristics and biochemistry were compared between 54 HNF-4alpha mutation carriers and 32 familial controls from ten newly detected or previously described families.
resultsMutations in HNF-4alpha were found in 14/48 (29%) probands negative for HNF-1alpha mutations. The mutations found included seven novel mutations: S34X, D206Y, E276D, L332P, I314F, L332insCTG and IVS5nt+1G>A. I314F is the first reported de novo HNF-4alpha mutation. The average age of diagnosis was 22.9 years with frequent clinical evidence of sensitivity to sulphonylureas. Beta cell function, but not insulin sensitivity, was reduced in diabetic mutation carriers compared to control subjects (homeostasis model assessment of beta cell function 29% p<0.001 vs controls). HNF-4alpha mutations were associated with lower apolipoprotein A2 (p=0.001), A1 (p=0.04) and total HDL-cholesterol (p=0.02) than in control subjects. However, in contrast to some previous reports, levels of triglycerides and apolipoprotein C3 were normal. CONCLUSIONS/
interpretationHNF-4alpha mutations are common when no HNF-1alpha mutation is found in strictly defined MODY families. The HNF-4alpha clinical phenotype and beta cell dysfunction are similar to HNF-1alpha MODY and are associated with reduced apolipoprotein A2 levels. We suggest that sequencing of HNF-4alpha should be performed in patients with clinical characteristics of HNF-1alpha MODY in whom mutations in HNF-1alpha are not found.
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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.