ArticleDiabetologia2014
De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed.
Article in Diabetologia, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers.
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56 citing papers in PubMed, 119 citations in OpenAlex.
- Systematic analysis of loss-of-function variants across MODY genes demonstrates gene-specific effects and expands the spectrum of INS variants causing MODY.Diabetologia · 2026Article
- 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
- Molecular diagnosis of maturity-onset diabetes of the young via whole-exome sequencing: a cohort study in Taizhou, China.Endocrine · 2026Article
- Bridging pancreatic and hepatic development: overlapping genes and their role in diabetes.Cellular & molecular biology letters · 2025Review
- Decoding MODY: exploring genetic roots and clinical pathways.Diabetology international · 2025Review
- Case Report: long-term misdiagnosis and follow-up of a patient withFrontiers in endocrinology · 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
- Clinical characteristics, treatment, and treatment switch after molecular-genetic classification in individuals with maturity-onset diabetes of the young: Insights from the multicenter real-world DPV registry.Journal of diabetes · 2024Article
- Treatment switch from multiple daily insulin injections to sulphonylureas in an African young adult diagnosed with HNF1A MODY: a case report.Journal of medical case reports · 2024Article
- Challenges in diagnosis and treatment of KCNJ11-MODY.Endocrinology, diabetes & metabolism case reports · 2024Article
- Clinical and Laboratory Characteristics of MODY Cases, Genetic Mutation Spectrum and Phenotype-genotype RelationshipJournal of clinical research in pediatric endocrinology · 2024Article
- The Importance of Molecular Genetic Testing for Precision Diagnostics, Management, and Genetic Counseling in MODY Patients.International journal of molecular sciences · 2024Article
- MODY Probability Calculator Is Suitable for MODY Screening in China: A Population-based Study.Journal of the Endocrine Society · 2024Article
- Investigation of Monogenic Diabetes Genes in Thai Children with Autoantibody Negative Diabetes Requiring Insulin.Diabetes, metabolic syndrome and obesity : targets and therapy · 2024Article
- Current views on etiology, diagnosis, epidemiology and gene therapy of maturity onset diabetes in the young.Frontiers in endocrinology · 2024Review
- New-Generation Glucokinase Activators: Potential Game-Changers in Type 2 Diabetes Treatment.International journal of molecular sciences · 2024Review
- Characterisation of HNF1A variants in paediatric diabetes in Norway using functional and clinical investigations to unmask phenotype and monogenic diabetes.Diabetologia · 2023Article
- Maturity-onset diabetes of the young type 9 or latent autoimmune diabetes in adults: A case report and review of literature.World journal of diabetes · 2023Article
- Role ofBiomedicines · 2023Article
- A case of maturity-onset diabetes of the young type 4 in Korea.Annals of pediatric endocrinology & metabolism · 2023Article
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Authors and funding
13 authors at 4 institutions in 2 countries.
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No grant is acknowledged in the PubMed record.
Abstract
aims/hypothesisMODY is mainly characterised by an early onset of diabetes and a positive family history of diabetes with an autosomal dominant mode of inheritance. However, de novo mutations have been reported anecdotally. The aim of this study was to systematically revisit a large collection of MODY patients to determine the minimum prevalence of de novo mutations in the most prevalent MODY genes (i.e. GCK, HNF1A, HNF4A).
methodsAnalysis of 922 patients from two national MODY centres (Slovakia and the Czech Republic) identified 150 probands (16%) who came from pedigrees that did not fulfil the criterion of two generations with diabetes but did fulfil the remaining criteria. The GCK, HNF1A and HNF4A genes were analysed by direct sequencing.
resultsMutations in GCK, HNF1A or HNF4A genes were detected in 58 of 150 individuals. Parents of 28 probands were unavailable for further analysis, and in 19 probands the mutation was inherited from an asymptomatic parent. In 11 probands the mutations arose de novo. CONCLUSIONS/
interpretationIn our cohort of MODY patients from two national centres the de novo mutations in GCK, HNF1A and HNF4A were present in 7.3% of the 150 families without a history of diabetes and 1.2% of all of the referrals for MODY testing. This is the largest collection of de novo MODY mutations to date, and our findings indicate a much higher frequency of de novo mutations than previously assumed. Therefore, genetic testing of MODY could be considered for carefully selected individuals without a family history of diabetes.
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