ArticleDiabetologia2013
Mutations in KCNJ11 are associated with the development of autosomal dominant, early-onset type 2 diabetes.
Article in Diabetologia, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 44 citations in OpenAlex.
- Clinical and genetic characteristics of maturity-onset diabetes of the young type 13: A systematic review of the literature.Journal of diabetes · 2024Pooled it
- Carrier screening in the reproductive setting-Are there medical implications for the heterozygote?-A guide for clinicians.Pregnancy (Hoboken, N.J.) · 2026Review
- KCNJ11 (p.Arg192Cys)-associated MODY13 with coexisting autoimmunity in a child, a case report.BMC pediatrics · 2026Article
- Multifaceted functions of transcription regulatory factor X6 (RFX6): from pancreatic development to cancer progression.Cancer cell international · 2025Review
- Decoding MODY: exploring genetic roots and clinical pathways.Diabetology international · 2025Review
- Missense mutation of ISL1 (E283D) is associated with the development of type 2 diabetes.Diabetologia · 2024Article
- A loss-of-function mutation in KCNJ11 causing sulfonylurea-sensitive diabetes in early adult life.Diabetologia · 2024Article
- Modelling human diabetesFrontiers in endocrinology · 2024Review
- MODY in China: two families carrying the KCNJ11 E229K variant.Acta diabetologica · 2023Article
- From glucose sensing to exocytosis: takes from maturity onset diabetes of the young.Frontiers in endocrinology · 2023Review
- Role of Actionable Genes in Pursuing a True Approach of Precision Medicine in Monogenic Diabetes.Genes · 2022Review
- Advances in multi-omics study of biomarkers of glycolipid metabolism disorder.Computational and structural biotechnology journal · 2022Review
- A novel mutation KCNJ11 R136C caused KCNJ11-MODY.Diabetology & metabolic syndrome · 2021Article
- Approach to the Patient with MODY-Monogenic Diabetes.The Journal of clinical endocrinology and metabolism · 2021Review
- Impact of Genetic Factors on the Age of Onset for Type 2 Diabetes Mellitus in Addition to the Conventional Risk Factors.Journal of personalized medicine · 2020Article
- Identification of Ala2Thr mutation in insulin gene from a Chinese MODY10 family.Molecular and cellular biochemistry · 2020Article
- New insights into KNature reviews. Endocrinology · 2020Review
- Maturity-onset diabetes of the young: update and perspectives on diagnosis and treatment.Yeungnam University journal of medicine · 2020Article
- How can maturity-onset diabetes of the young be identified among more common diabetes subtypes?Wiener klinische Wochenschrift · 2019Review
- DNA methylation of candidate genes in peripheral blood from patients with type 2 diabetes or the metabolic syndrome.PloS one · 2017Article
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Authors and funding
12 authors at 7 institutions in 3 countries.
Funding
Abstract
aims/hypothesisMore than 90% of Chinese familial early-onset type 2 diabetes mellitus is genetically unexplained. To investigate the molecular aetiology, we identified and characterised whether mutations in the KCNJ11 gene are responsible for these families.
methodsKCNJ11 mutations were screened for 96 familial early-onset type 2 diabetic probands and their families. Functional significance of the identified mutations was confirmed by physiological analysis, molecular modelling and population survey.
resultsThree novel KCNJ11 mutations, R27H, R192H and S116F117del, were identified in three families with early-onset type 2 diabetes mellitus. Mutated KCNJ11 with R27H or R192H markedly reduced ATP sensitivity (E23K>R27H>C42R>R192H>R201H), but no ATP-sensitive potassium channel currents were detected in the loss-of-function S116F117del channel in vitro. Molecular modelling indicated that R192H had a larger effect on the channel ATP-binding pocket than R27H, which may qualitatively explain why the ATP sensitivity of the R192H mutation is seven times less than R27H. The shape of the S116F117del channel may be compressed, which may explain why the mutated channel had no currents. Discontinuation of insulin and implementation of sulfonylureas for R27H or R192H carriers and continuation/switch to insulin therapy for S116F117del carriers resulted in good glycaemic control. CONCLUSIONS/
interpretationOur results suggest that genetic diagnosis for the KCNJ11 mutations in familial early-onset type 2 diabetes mellitus may help in understanding the molecular aetiology and in providing more personalised treatment for these specific forms of diabetes in Chinese and other Asian patients.
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