ArticleDiabetes, obesity & metabolism2007
Mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period.
Article in Diabetes, obesity & metabolism, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers, 1 of them a synthesis that pooled it.
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Who cites it
43 citing papers in PubMed, 1 synthesis or guideline pooled it, 88 citations in OpenAlex.
- Clinical and Genetic Characteristics ofJournal of diabetes research · 2021Pooled it
- Congenital Hyperinsulinism With Paternally InheritedJournal of the ASEAN Federation of Endocrine Societies · 2026Article
- Is high insulin protective or detrimental? Mathematical modeling reveals the base of the iceberg.American journal of physiology. Endocrinology and metabolism · 2026Article
- Review
- Clinical and Genetic Characteristics of Patients with Early-Onset Diabetes Involving at Least Two Consecutive Generations: Whole-Exome Sequencing in Probands from 25 Pedigrees.Current medical science · 2025Article
- Monogenic diabetes: An evidence-based clinical approach.World journal of diabetes · 2025Review
- Expression of SUR1 isoforms in the brain and heart after ischemia/reperfusion.Frontiers in molecular neuroscience · 2025Article
- The Elusive Nature of ABCC8-related Maturity-Onset Diabetes of the Young (ABCC8-MODY). A Review of the Literature and Case Discussion.Current diabetes reports · 2024Review
- Glucose Concentration in Regulating Induced Pluripotent Stem Cells Differentiation Toward Insulin-Producing Cells.Transplant international : official journal of the European Society for Organ Transplantation · 2024Article
- Transient Neonatal Diabetes Mellitus and Seizure with an Unknown Etiology.Journal of pediatric genetics · 2023Article
- Personalized Therapeutics for KAnnual review of pharmacology and toxicology · 2023Review
- The Mutation Spectrum of Rare Variants in the Gene of Adenosine Triphosphate (ATP)-Binding Cassette Subfamily C Member 8 in Patients with a MODY Phenotype in Western Siberia.Journal of personalized medicine · 2023Article
- Early transition to sulfonylurea therapy in infant with DEND syndrome due to F132L ABCC8 mutation.Acta diabetologica · 2022Article
- Monogenic diabetes: a gateway to precision medicine in diabetes.The Journal of clinical investigation · 2021Review
- Molecular Genetics, Clinical Characteristics, and Treatment Outcomes of KFrontiers in endocrinology · 2021Article
- Pharmacogenetics of Type 2 Diabetes-Progress and Prospects.International journal of molecular sciences · 2020Review
- New insights into KNature reviews. Endocrinology · 2020Review
- Update of variants identified in the pancreatic β-cell KHuman mutation · 2020Review
- Article
- Ion Transporters, Channelopathies, and Glucose Disorders.International journal of molecular sciences · 2019Review
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
aimMutations in the ABCC8 gene encoding the SUR1 subunit of the pancreatic ATP-sensitive potassium channel cause permanent neonatal diabetes mellitus (PNDM) and transient neonatal diabetes mellitus (TNDM). We reviewed the existing literature, extended the number of cases and explored genotype-phenotype correlations.
methodsMutations were identified by sequencing in patients diagnosed with diabetes before 6 months without a KCNJ11 mutation.
resultsWe identified ABCC8 mutations in an additional nine probands (including five novel mutations L135P, R306H, R1314H, L438F and M1290V), bringing the total of reported families to 48. Both dominant and recessive mutations were observed with recessive inheritance more common in PNDM than TNDM (9 vs. 1; p < 0.01). The remainder of the PNDM probands (n = 12) had de novo mutations. Seventeen of twenty-five children with TNDM inherited their heterozygous mutation from a parent. Nine of these parents had permanent diabetes (median age at diagnosis: 27.5 years, range: 13-35 years). Recurrent mutations of residues R1183 and R1380 were found only in TNDM probands and dominant mutations causing PNDM clustered within exons 2-5.
conclusionsABCC8 mutations cause PNDM, TNDM or permanent diabetes diagnosed outside the neonatal period. There is some evidence that the location of the mutation is correlated with the clinical phenotype.
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Registered trials
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