ArticleThe Journal of clinical endocrinology and metabolism2018
Congenital Hyperinsulinism and Hypopituitarism Attributable to a Mutation in FOXA2.
Article in The Journal of clinical endocrinology and metabolism, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 42 citations in OpenAlex.
- Protein arginine methyltransferases as metabolic regulators: many roles beyond cancer.Science China. Life sciences · 2026Review
- FOXA2 in islet biology: Orchestrating pancreatic development and glucose homeostasis.Genes & diseases · 2026Review
- From standard to individualized diazoxide therapy in congenital hyperinsulinism: a narrative review.Frontiers in pharmacology · 2026Review
- Bridging pancreatic and hepatic development: overlapping genes and their role in diabetes.Cellular & molecular biology letters · 2025Review
- Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements.European journal of human genetics : EJHG · 2024Article
- Genetic Variations in Hyperinsulinemic Hypoglycemia: Active versus Inactive Mutations.Diabetes, metabolic syndrome and obesity : targets and therapy · 2024Review
- Bridging the gaps: recent advances in diagnosis, care, and outcomes in congenital hyperinsulinism.Current opinion in pediatrics · 2023Review
- Congenital hyperinsulinism and panhypopituitarism: a rare combination.Endocrinology, diabetes & metabolism case reports · 2023Article
- The role of FOXA family transcription factors in glucolipid metabolism and NAFLD.Frontiers in endocrinology · 2023Review
- Syndromic forms of congenital hyperinsulinism.Frontiers in endocrinology · 2023Review
- Hyperinsulinemic Hypoglycemia and Growth Hormone Deficiency Secondary to 20p11 Deletion.Case reports in endocrinology · 2023Article
- Whole-exome sequencing identifies FOXL2, FOXA2 and FOXA3 as candidate genes for monogenic congenital anomalies of the kidneys and urinary tract.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2022Article
- Novel genes and variants associated with congenital pituitary hormone deficiency in the era of next-generation sequencing.Frontiers in endocrinology · 2022Review
- Genetic pathogenesis, diagnosis, and treatment of short-chain 3-hydroxyacyl-coenzyme A dehydrogenase hyperinsulinism.Orphanet journal of rare diseases · 2021Review
- Comprehensive Identification of Pathogenic Gene Variants in Patients With Neuroendocrine Disorders.The Journal of clinical endocrinology and metabolism · 2021Article
- Aberrant development of pancreatic beta cells derived from human iPSCs with FOXA2 deficiency.Cell death & disease · 2021Article
- 20p11.23-p11.21 deletion in a child with hyperinsulinemic hypoglycemia and GH deficiency: A case report.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2021Article
- Hyperinsulinemic hypoglycemia in children and adolescents: Recent advances in understanding of pathophysiology and management.Reviews in endocrine & metabolic disorders · 2020Review
- Haploinsufficiency of the FOXA2 associated with a complex clinical phenotype.Molecular genetics & genomic medicine · 2020Article
- Congenital hyperinsulinism disorders: Genetic and clinical characteristics.American journal of medical genetics. Part C, Seminars in medical genetics · 2019Review
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
Context: Persistent hypoglycemia in the newborn period most commonly occurs as a result of hyperinsulinism. The phenotype of hypoketotic hypoglycemia can also result from pituitary hormone deficiencies, including growth hormone and adrenocorticotropic hormone deficiency. Forkhead box A2 (Foxa2) is a transcription factor shown in mouse models to influence insulin secretion by pancreatic β cells. In addition, Foxa2 is involved in regulation of pituitary development, and deletions of FOXA2 have been linked to panhypopituitarism. Objective: To describe an infant with congenital hyperinsulinism and hypopituitarism as a result of a mutation in FOXA2 and to determine the functional impact of the identified mutation. Main Outcome Measure: Difference in wild-type (WT) vs mutant Foxa2 transactivation of target genes that are critical for β cell function (ABCC8, KNCJ11, HADH) and pituitary development (GLI2, NKX2-2, SHH). Results: Transactivation by mutant Foxa2 of all genes studied was substantially decreased compared with WT. Conclusions: We report a mutation in FOXA2 leading to congenital hyperinsulinism and hypopituitarism and provide functional evidence of the molecular mechanism responsible for this phenotype.
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Registered trials
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.