ArticleNature genetics2015
Transcriptional regulator PRDM12 is essential for human pain perception.
Erratum issuedOpen access · greenAbstract read
In one paragraph
Article in Nature genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 91 papers.
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91citing papers in PubMed
10.6field-weighted citation impact, top 1% of its field
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Who cites it
91 citing papers in PubMed, 171 citations in OpenAlex.
- Gene variants associated with pediatric-onset erythromelalgia: Mendelian and rare-variant association analyses.Pain reports · 2026Article
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- The Roles of the PRDM Family in the Neuro-Motor System.Biomolecules · 2026Review
- Expanding the Genetic Landscape of Congenital Insensitivity to Pain.Neurology. Genetics · 2026Article
- Clinical immunology in chromatinopathies: a scoping review.Frontiers in immunology · 2026Article
- Fast-conducting mechanonociceptors uniquely engage reflexive and affective pain circuitry to drive protective responses.bioRxiv : the preprint server for biology · 2025Article
- Review
- A multi-omic atlas of human autonomic and sensory ganglia implicates cell types in peripheral neuropathies.bioRxiv : the preprint server for biology · 2025Article
- Modalities Differentiation of Pain Perception Following Ischemic Stroke: Decreased Pressure Pain Perception.Biomedicines · 2025Article
- A pathological missense mutation in the deubiquitinase USP5 leads to insensitivity to pain.The Journal of experimental medicine · 2025Article
- Early colorectal cancer diagnosis: A novel methylated stool DNA model enhanced the diagnostic efficiency.United European gastroenterology journal · 2025Article
- Successful Management of a Complicated Forearm Fracture in a Patient with Congenital Insensitivity to Pain: A Case Report.International medical case reports journal · 2025Article
- Leveraging deep single-soma RNA sequencing to explore the neural basis of human somatosensation.Nature neuroscience · 2024Article
- Psychometric and network analysis of kinesiophobia in Iranian surgical patients.Scientific reports · 2024Article
- Midfacial toddler excoriation syndrome (MiTES): case series, diagnostic criteria and evidence for a pathogenic mechanism.The British journal of dermatology · 2024Article
- Pathology of pain and its implications for therapeutic interventions.Signal transduction and targeted therapy · 2024Review
- A Systematic Review of Congenital Insensitivity to Pain, a Rare Disease.Journal of personalized medicine · 2024Review
- Age-associated changes in multimodal pain perception.Age and ageing · 2024Article
- Identification of a Novel Homozygous Mutation inArchives of Iranian medicine · 2024Article
- Loss of G9a does not phenocopy the requirement for Prdm12 in the development of the nociceptive neuron lineage.Neural development · 2024Article
31 more citing papers are in PubMed but not listed here.
Corrections and comments
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- Erratum issued
Authors and funding
59 authors at 20 institutions in 15 countries.
Ya-Chun Chen1] Department of Medical Genetics, University of Cambridge, Cambridge, UK. [2] Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.
Michaela Auer-GrumbachDepartment of Orthopaedics, Medical University Vienna, Vienna, Austria.
Shinya MatsukawaDepartment of Life Sciences, Graduate School of Arts and Sciences, University of Tokyo, Tokyo, Japan.
Manuela ZitzelsbergerFriedrich-Baur-Institute, Ludwig Maximilians University Munich, Munich, Germany.
Andreas C Themistocleous1] Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK. [2] Brain Function Research Group, School of Physiology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Tim M Strom1] Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany. [2] Institute of Human Genetics, Technische Universität München, Munich, Germany.
Chrysanthi SamaraDepartment of Medical Genetics, University of Lausanne, Lausanne, Switzerland.
Adrian W MooreDisease Mechanism Research Core, RIKEN Brain Science Institute, Saitama, Japan.
Lily Ting-Yin ChoNeusentis Research Unit, Pfizer, Cambridge, UK.
Gareth T YoungNeusentis Research Unit, Pfizer, Cambridge, UK.
Caecilia WeissFriedrich-Baur-Institute, Ludwig Maximilians University Munich, Munich, Germany.
Maria SchabhüttlDepartment of Orthopaedics, Medical University Vienna, Vienna, Austria.
Rolf StuckaFriedrich-Baur-Institute, Ludwig Maximilians University Munich, Munich, Germany.
Annina B Schmid1] Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK. [2] School of Health and Rehabilitation Sciences, The University of Queensland, St. Lucia, Australia.
Yesim ParmanDepartment of Neurology, Istanbul University, Istanbul, Turkey.
Luitgard Graul-NeumannAmbulantes Gesundheitszentrum der Charité Campus Virchow (Humangenetik), Universitätsmedizin Berlin, Berlin, Germany.
Wolfram Heinritz1] Praxis für Humangenetik Cottbus, Cottbus, Germany. [2] Institut für Humangenetik, Universitätsklinikum Leipzig, Leipzig, Germany.
Eberhard Passarge1] Institut für Humangenetik, Universitätsklinikum Leipzig, Leipzig, Germany. [2] Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany.
Rosemarie M WatsonDepartment of Dermatology, Our Lady's Children's Hospital, Dublin, Ireland.
Jens Michael HertzDepartment of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Ute MoogInstitute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Manuela BaumgartnerNeuropädiatrische Ambulanz, Krankenhaus der Barmherzigen Schwestern Linz, Linz, Austria.
Enza Maria ValenteNeurogenetics Unit, Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
Diego PereiraDepartamento de Cirugía Plástica, Hospital Infantil Universitario de San José, Bogotá, Colombia.
Carlos M RestrepoUnidad de Genética, Universidad del Rosario, Bogotá, Colombia.
Istvan KatonaInstitut für Neuropathologie, Uniklinik RWTH Aachen, Aachen, Germany.
Marina DuslFriedrich-Baur-Institute, Ludwig Maximilians University Munich, Munich, Germany.
Claudia Stendel1] Friedrich-Baur-Institute, Ludwig Maximilians University Munich, Munich, Germany. [2] German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.
Thomas WielandInstitute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
Fay Stafford1] Department of Medical Genetics, University of Cambridge, Cambridge, UK. [2] Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.
Frank ReimannDepartment of Clinical Biochemistry, University of Cambridge, Cambridge, UK.
Katja von AuSPZ Neuropädiatrie Charité, Universitätsmedizin Berlin, Berlin, Germany.
Christian FinkeCharitéCentrum für Zahn-, Mund- und Kieferheilkunde, Arbeitsbereich Kinderzahnmedizin, Universitätsmedizin Berlin, Berlin, Germany.
Patrick J WillemsGENDIA (GENetic DIAgnostic Network), Antwerp, Belgium.
Michael S Nahorski1] Department of Medical Genetics, University of Cambridge, Cambridge, UK. [2] Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.
Samiha S Shaikh1] Department of Medical Genetics, University of Cambridge, Cambridge, UK. [2] Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.
Ofélia P Carvalho1] Department of Medical Genetics, University of Cambridge, Cambridge, UK. [2] Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.ORCID 0000000274509980
Adeline K NicholasCambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.
Gulshan KarbaniYorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK.
Maeve A McAleerDepartment of Dermatology, Our Lady's Children's Hospital, Dublin, Ireland.
Maria Roberta Cilio1] Department of Neurology, University of California San Francisco, San Francisco, California, USA. [2] Department of Neuroscience, Bambino Gesù Children's Hospital and Research Institute, Rome, Italy.
John C McHughDepartment of Neurology and Neurophysiology, Our Lady's Children's Hospital, Dublin, Ireland.
Sinead M Murphy1] Department of Neurology, Adelaide &Meath Hospital, Dublin, Ireland. [2] Academic Unit of Neurology, Trinity College, Dublin, Ireland.
Alan D Irvine1] Department of Dermatology, Our Lady's Children's Hospital, Dublin, Ireland. [2] Clinical Medicine, Trinity College, Dublin, Ireland.
Uffe Birk JensenDepartment of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.
Reinhard WindhagerDepartment of Orthopaedics, Medical University Vienna, Vienna, Austria.
Joachim WeisInstitut für Neuropathologie, Uniklinik RWTH Aachen, Aachen, Germany.
Carsten Bergmann1] Center for Human Genetics, Bioscientia, Ingelheim, Germany. [2] Department of Medicine, Renal Division, Freiburg University Medical Center, Freiburg, Germany. [3] Center for Clinical Research, Freiburg University Medical Center, Freiburg, Germany.
Bernd Rautenstrauss1] Friedrich-Baur-Institute, Ludwig Maximilians University Munich, Munich, Germany. [2] Medizinisch Genetisches Zentrum, Munich, Germany.
Jonathan Baets1] Neurogenetics Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium. [2] Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium. [3] Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.
Peter De Jonghe1] Neurogenetics Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium. [2] Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium. [3] Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.
Mary M ReillyMRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, National Hospital for Neurology, London, UK.
Regina KropatschDepartment of Human Genetics, Ruhr-University Bochum, Bochum, Germany.
Ingo KurthInstitute of Human Genetics, Jena University Hospital, Jena, Germany.ORCID 0000000256428378
Roman Chrast1] Institute of Human Genetics, Technische Universität München, Munich, Germany. [2] Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden. [3] Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.
Tatsuo MichiueDepartment of Life Sciences, Graduate School of Arts and Sciences, University of Tokyo, Tokyo, Japan.
David L H BennettNuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
C Geoffrey Woods1] Department of Medical Genetics, University of Cambridge, Cambridge, UK. [2] Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.
Jan SenderekFriedrich-Baur-Institute, Ludwig Maximilians University Munich, Munich, Germany.
University of Cambridge · GBFriedrich Baur Stiftung · DEOur Lady's Hospital · IECharité - Universitätsmedizin Berlin · DEMedical University of Vienna · ATHelmholtz Zentrum München · DEPfizer (United Kingdom) · GBTokyo University of the Arts · JPUniversitätsklinikum Aachen · DEUniversity of Antwerp · BEAarhus University Hospital · DKCasa Sollievo della Sofferenza · ITChapel Allerton Hospital · GBGerman Center for Neurodegenerative Diseases · DEHeidelberg University · DEHospital Universitario Infantil San José · COInstitut für Medizinische Informatik, Biometrie und Epidemiologie · DEIstanbul University · TRJena University Hospital · DEKarolinska Institutet · SE
Funding
Austrian Science Fund FWF P 23223Medical Research Council MC_UU_12012/3Medical Research Council MR/J012742/1Medical Research Council MR/K000608/1Wellcome Trust 095698z/11/zWellcome Trust 102645
Abstract
Pain perception has evolved as a warning mechanism to alert organisms to tissue damage and dangerous environments. In humans, however, undesirable, excessive or chronic pain is a common and major societal burden for which available medical treatments are currently suboptimal. New therapeutic options have recently been derived from studies of individuals with congenital insensitivity to pain (CIP). Here we identified 10 different homozygous mutations in PRDM12 (encoding PRDI-BF1 and RIZ homology domain-containing protein 12) in subjects with CIP from 11 families. Prdm proteins are a family of epigenetic regulators that control neural specification and neurogenesis. We determined that Prdm12 is expressed in nociceptors and their progenitors and participates in the development of sensory neurons in Xenopus embryos. Moreover, CIP-associated mutants abrogate the histone-modifying potential associated with wild-type Prdm12. Prdm12 emerges as a key factor in the orchestration of sensory neurogenesis and may hold promise as a target for new pain therapeutics.
Indexed as
Pain PerceptionAnimalsCarrier ProteinsChlorocebus aethiopsConsanguinityCOS CellsFemaleGenetic Association StudiesHereditary Sensory and Autonomic NeuropathiesHumansMaleMutationNerve Tissue ProteinsNeurogenesisNociceptorsPain Insensitivity, CongenitalCarrier ProteinsNerve Tissue ProteinsPrdm12 protein, human
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