ArticleJournal of the American Society of Nephrology : JASN2017
Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.
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Article in Journal of the American Society of Nephrology : JASN, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 63 papers, 3 of them syntheses that pooled it.
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63citing papers in PubMed, 3 pooled it
14.4field-weighted citation impact, top 1% of its field
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Who cites it
63 citing papers in PubMed, 3 syntheses or guidelines pooled it, 111 citations in OpenAlex.
- International Guidelines for the Diagnosis and Management of Hyperinsulinism.Hormone research in paediatrics · 2024Guideline
- Efficacy and safety of diazoxide for treating hyperinsulinemic hypoglycemia: A systematic review and meta-analysis.PloS one · 2021Pooled it
- Pooled it
- [Clinical practice guidelines "Congenital hyperinsulinism"].Problemy endokrinologii · 2026Review
- Comprehensive genetic rescreening improves diagnostic yield in congenital hyperinsulinism.Journal of the Endocrine Society · 2026Article
- Novel mouse model reveals neurodevelopmental origin of PMM2-CDG brain pathology.bioRxiv : the preprint server for biology · 2025Article
- Putative looping factor ZNF143/ZFP143 is an essential transcriptional regulator with no looping function.Molecular cell · 2025Article
- Phosphomannomutase 2-congenital disorder of glycosylation: exploring the role of N-glycosylation on the endocrine axes.Frontiers in endocrinology · 2025Review
- Mannose phosphate isomerase-congenital disorder of glycosylation leads to asymptomatic hypoglycemia.Molecular genetics and metabolism reports · 2024Article
- Genetic Variations in Hyperinsulinemic Hypoglycemia: Active versus Inactive Mutations.Diabetes, metabolic syndrome and obesity : targets and therapy · 2024Review
- Parasympathetic activity and total fibrotic kidney in autosomal-dominant polycystic kidney disease patients: a pilot study.International urology and nephrology · 2023Article
- Clinical and biochemical footprints of inherited metabolic diseases. XIV. Metabolic kidney diseases.Molecular genetics and metabolism · 2023Article
- Genetic Spectrum of Polycystic Kidney and Liver Diseases and the Resulting Phenotypes.Advances in kidney disease and health · 2023Review
- Urinary Biomarkers in Monitoring the Progression and Treatment of Autosomal Dominant Polycystic Kidney Disease-The Promised Land?Medicina (Kaunas, Lithuania) · 2023Review
- Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia.Human genetics · 2023Article
- Syndromic forms of congenital hyperinsulinism.Frontiers in endocrinology · 2023Review
- Hyperinsulinemic Hypoglycemia Due toPediatric reports · 2022Article
- Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.American journal of human genetics · 2022Article
- Localized islet nuclear enlargement hyperinsulinism (LINE-HI) due to ABCC8 and GCK mosaic mutations.European journal of endocrinology · 2022Article
- Variation in Glycemic Outcomes in Focal Forms of Congenital Hyperinsulinism-The UK Perspective.Journal of the Endocrine Society · 2022Article
3 more citing papers are in PubMed but not listed here.
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Authors and funding
46 authors at 15 institutions in 6 countries.
Oscar Rubio CabezasPediatric Endocrinology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.
Sarah E FlanaganUniversity of Exeter Medical School, Institute of Biomedical and Clinical Science, Exeter, United Kingdom.
Horia StanescuUniversity College London Centre for Nephrology, University College London, London, United Kingdom.
Elena García-MartínezPediatric Nephrology, Hospital Universitario Reina Sofía, Córdoba, Spain.
Richard CaswellUniversity of Exeter Medical School, Institute of Biomedical and Clinical Science, Exeter, United Kingdom.
Hana Lango-AllenUniversity of Exeter Medical School, Institute of Biomedical and Clinical Science, Exeter, United Kingdom.
Montserrat Antón-GameroPediatric Nephrology, Hospital Universitario Reina Sofía, Córdoba, Spain.
Jesús ArgentePediatric Endocrinology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.
Anna-Marie BussellUniversity of Exeter Medical School, Institute of Biomedical and Clinical Science, Exeter, United Kingdom.
Andre BrandliWalter-Brendel-Center of Experimental Medicine, Ludwig-Maximilians-University Munich, Munich, Germany.
Chris CheshireUniversity College London Centre for Nephrology, University College London, London, United Kingdom.
Elizabeth CrowneUniversity of Bristol and Bristol Royal Hospital for Children, Bristol, United Kingdom.
Simona DumitriuUniversity College London Centre for Nephrology, University College London, London, United Kingdom.
Robert DryndaDiabetes Research Group, King's College, London, United Kingdom.
Julian P Hamilton-ShieldUniversity of Bristol and Bristol Royal Hospital for Children, Bristol, United Kingdom.
Wesley HayesGreat Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
Alexis HofherrRenal Division, Department of Medicine, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Daniela IancuUniversity College London Centre for Nephrology, University College London, London, United Kingdom.
Naomi IsslerUniversity College London Centre for Nephrology, University College London, London, United Kingdom.
Craig JefferiesStarship Children's Hospital, Liggins Institute, University of Auckland, Auckland, New Zealand.
Peter JonesDiabetes Research Group, King's College, London, United Kingdom.
Matthew JohnsonUniversity of Exeter Medical School, Institute of Biomedical and Clinical Science, Exeter, United Kingdom.
Anne KesselheimUniversity College London Centre for Nephrology, University College London, London, United Kingdom.
Enriko KlootwijkUniversity College London Centre for Nephrology, University College London, London, United Kingdom.
Michael KoettgenRenal Division, Department of Medicine, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Wendy LewisEast of Scotland Genetic Service, Dundee, United Kingdom.
José María MartosPediatric Endocrinology, Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, Spain.
Monika MozereUniversity College London Centre for Nephrology, University College London, London, United Kingdom.
Jill NormanUniversity College London Centre for Nephrology, University College London, London, United Kingdom.
Vaksha PatelUniversity College London Centre for Nephrology, University College London, London, United Kingdom.
Andrew ParrishUniversity of Exeter Medical School, Institute of Biomedical and Clinical Science, Exeter, United Kingdom.
Celia Pérez-CerdáCentro de Diagnóstico de Enfermedades Moleculares, Universidad Autónoma de Madrid, Center for Biomedical Research in Rare diseases, Instituto de Investigacion Hospital Universitario La Paz, Madrid, Spain.
Jesús PozoPediatric Endocrinology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.
Sofia A RahmanUniversity College London Institute of Child Health, London, United Kingdom.
Neil SebireGreat Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
Mehmet TekmanUniversity College London Centre for Nephrology, University College London, London, United Kingdom.
Peter D TurnpennyClinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.
William Van't HoffGreat Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
Daan H H M VieringUniversity College London Centre for Nephrology, University College London, London, United Kingdom.
Michael N WeedonUniversity of Exeter Medical School, Institute of Biomedical and Clinical Science, Exeter, United Kingdom.
Patricia WilsonUniversity College London Centre for Nephrology, University College London, London, United Kingdom.
Lisa Guay-WoodfordChildren's National Health System, Washington, DC; and.
Robert KletaUniversity College London Centre for Nephrology, University College London, London, United Kingdom.
Khalid HussainGreat Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
Sian EllardUniversity of Exeter Medical School, Institute of Biomedical and Clinical Science, Exeter, United Kingdom.
Detlef BockenhauerUniversity College London Centre for Nephrology, University College London, London, United Kingdom.
University College London · GBUniversity of Exeter · GBGreat Ormond Street Hospital for Children NHS Foundation Trust · GBHospital Infantil Universitario Niño Jesús · ESBristol Royal Hospital for Children · GBHospital Universitario Reina Sofía · ESKing's College London · GBUniversity of Freiburg · DEChildren's National · USHospital Universitario La Paz · ESHospital Universitario Virgen de la Arrixaca · ESLudwig-Maximilians-Universität München · DERoyal Devon & Exeter NHS Foundation Trust · GBSidra Medical and Research Center · QAStarship Children's Health · NZ
Funding
Wellcome Trust 098395Wellcome Trust 105636
Abstract
Hyperinsulinemic hypoglycemia (HI) and congenital polycystic kidney disease (PKD) are rare, genetically heterogeneous disorders. The co-occurrence of these disorders (HIPKD) in 17 children from 11 unrelated families suggested an unrecognized genetic disorder. Whole-genome linkage analysis in five informative families identified a single significant locus on chromosome 16p13.2 (logarithm of odds score 6.5). Sequencing of the coding regions of all linked genes failed to identify biallelic mutations. Instead, we found in all patients a promoter mutation (c.-167G>T) in the phosphomannomutase 2 gene (
Indexed as
MutationChild, PreschoolCongenital HyperinsulinismFemaleHumansInfantInfant, NewbornMalePhosphotransferases (Phosphomutases)Polycystic Kidney DiseasesPromoter Regions, Geneticphosphomannomutase 2, humanPhosphotransferases (Phosphomutases)glycosylationhyperinsulinemic hypoglycemiaPMM2polycystic kidney diseasepromoterZNF143
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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.