ArticleDiabetic medicine : a journal of the British Diabetic Association2013
Biallelic PDX1 (insulin promoter factor 1) mutations causing neonatal diabetes without exocrine pancreatic insufficiency.
Article in Diabetic medicine : a journal of the British Diabetic Association, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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26 citing papers in PubMed, 54 citations in OpenAlex.
- Identification of the ACTB p.Ser348Leu de novo variant in individuals with syndromic neonatal diabetes.EBioMedicine · 2026Article
- Unraveling A-β+ ketosis-prone diabetes: An evolving diagnosis with an elusive pathogenesis.Journal of diabetes investigation · 2026Review
- Complete Pancreatic Agenesis Presenting With Neonatal Diabetes and Exocrine Insufficiency: A Case Report.Cureus · 2025Article
- Neonatal diabetes-associated missense PDX1 variant disrupts chromatin association and protein-protein interaction.JCI insight · 2025Article
- Widening the phenotypic spectrum caused by pathogenicBMJ open diabetes research & care · 2024Article
- What Do We Know about Neonatal Diabetes caused byCurrent diabetes reviews · 2024Review
- Investigation of Monogenic Diabetes Genes in Thai Children with Autoantibody Negative Diabetes Requiring Insulin.Diabetes, metabolic syndrome and obesity : targets and therapy · 2024Article
- The use of precision diagnostics for monogenic diabetes: a systematic review and expert opinion.Communications medicine · 2023Article
- Neonatal and early-onset diabetes in Ukraine: Atypical features and mortality.Diabetic medicine : a journal of the British Diabetic Association · 2023Article
- From glucose sensing to exocytosis: takes from maturity onset diabetes of the young.Frontiers in endocrinology · 2023Review
- Sensor Augmented Pump Therapy is Safe and Effective in Very Low Birth Weight Newborns Affected by Neonatal Diabetes Mellitus, With Poor Subcutaneous Tissue: Replacement of the Insulin Pump Infusion Set on the Arm, a Video Case Report.Journal of diabetes science and technology · 2022Article
- First Japanese Family WithJournal of the Endocrine Society · 2022Article
- Pancreatic Differentiation of Stem Cells Reveals Pathogenesis of a Syndrome of Ketosis-Prone Diabetes.Diabetes · 2021Article
- Do second generation sequencing techniques identify documented genetic markers for neonatal diabetes mellitus?Heliyon · 2021Review
- 100 YEARS OF INSULIN: A brief history of diabetes genetics: insights for pancreatic beta-cell development and function.The Journal of endocrinology · 2021Review
- A family harboring an MLKL loss of function variant implicates impaired necroptosis in diabetes.Cell death & disease · 2021Article
- Clinical Characteristics and Long-term Follow-up of Patients with Diabetes Due To PTF1A Enhancer Mutations.The Journal of clinical endocrinology and metabolism · 2020Article
- Transcription factors that shape the mammalian pancreas.Diabetologia · 2020Review
- Animal Models of Pancreas Development, Developmental Disorders, and Disease.Advances in experimental medicine and biology · 2020Review
- Iranian neonatal diabetes mellitus due to mutation in PDX1 gene: a case report.Journal of medical case reports · 2019Article
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Authors and funding
12 authors at 5 institutions in 4 countries.
Funding
Abstract
aimsRecessive PDX1 (IPF1) mutations are a rare cause of pancreatic agenesis, with three cases reported worldwide. A recent report described two cousins with a homozygous hypomorphic PDX1 mutation causing permanent neonatal diabetes with subclinical exocrine insufficiency. The aim of our study was to investigate the possibility of hypomorphic PDX1 mutations in a large cohort of patients with permanent neonatal diabetes and no reported pancreatic hypoplasia or exocrine insufficiency.
methodsPDX1 was sequenced in 103 probands with isolated permanent neonatal diabetes in whom ABCC8, KCNJ11 and INS mutations had been excluded.
resultsSequencing analysis identified biallelic PDX1 mutations in three of the 103 probands with permanent neonatal diabetes (2.9%). One proband and his affected brother were compound heterozygotes for a frameshift and a novel missense mutation (p.A34fsX191; c.98dupC and p.P87L; c.260C>T). The other two probands were homozygous for novel PDX1 missense mutations (p.A152G; c.455C>G and p.R176Q; c.527G>A). Both mutations affect highly conserved residues located within the homeobox domain. None of the four cases showed any evidence of exocrine pancreatic insufficiency, either clinically, or, where data were available, biochemically. In addition a heterozygous nonsense mutation (p.C18X; c.54C>A) was identified in a fourth case.
conclusionsThis study demonstrates that recessive PDX1 mutations are a rare but important cause of isolated permanent neonatal diabetes in patients without pancreatic hypoplasia/agenesis. Inclusion of the PDX1 gene in mutation screening for permanent neonatal diabetes is recommended as a genetic diagnosis reveals the mode of inheritance, allows accurate estimation of recurrence risks and confirms the requirement for insulin treatment.
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