ArticleBrain : a journal of neurology2023
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
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Article in Brain : a journal of neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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12citing papers in PubMed
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Who cites it
12 citing papers in PubMed.
- Mitochondrial energetic failure underlies FLVCR1-related sensory neuropathy.Communications biology · 2026Article
- Early clinical diagnosis of congenital insensitivity to pain with anhidrosis in an infant: a case report.Frontiers in pediatrics · 2026Article
- FLVCR1-related diseases: from clinical heterogeneity to mechanistic insights.Brain communications · 2026Review
- Pediatric erythromelalgia from multidisciplinary perspectives: a scoping review.Pediatric research · 2025Article
- Exploring Facial Nucleus-Centered Connectivity in Hemifacial Spasm: Novel Insights into Pathogenesis and Surgical Impact.Brain topography · 2025Article
- A structured list of laboratory tests for screening the possible causes of small fiber neuropathy in clinical practice.Frontiers in neurology · 2025Review
- Oral Rehabilitation in Patient With Hereditary Sensory and Autonomic Neuropathy (HSAN) Type V: Clinical Report.Case reports in dentistry · 2025Article
- Dysregulation of FLVCR1a-dependent mitochondrial calcium handling in neural progenitors causes congenital hydrocephalus.Cell reports. Medicine · 2024Article
- Homozygosity for a RareInternational journal of molecular sciences · 2024Article
- Article
- Unearthing FLVCR1a: tracing the path to a vital cellular transporter.Cellular and molecular life sciences : CMLS · 2024Review
- Optical genome mapping identifies a homozygous deletion in the non-coding region of the SCN9A gene in individuals from the same family with congenital insensitivity to pain.Frontiers in genetics · 2024Article
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Authors and funding
82 authors.
Annette LischkaInstitute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany.ORCID 0000-0001-8042-4361
Katja EggermannInstitute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany.
Christopher J RecordDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.ORCID 0000-0002-9802-2683
Maike F DohrnDepartment of Neurology, Medical Faculty of the RWTH Aachen University, 52074 Aachen, Germany.ORCID 0000-0002-5320-9807
Petra LaššuthováDepartment of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, 150 06 Praha, Czechia.
Florian KraftInstitute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany.ORCID 0000-0002-5324-9155
Matthias BegemannInstitute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany.
Daniela DeyInstitute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany.
Thomas EggermannInstitute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany.ORCID 0000-0002-8419-0264
Danique BeijerDr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL 33136, USA.ORCID 0000-0001-6593-7644
Jana ŠoukalováDepartment of Medical Genetics, University Hospital Brno, 625 00 Brno, Czechia.
Matilde LauraDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
Alexander M RossorDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
Radim MazanecDepartment of Neurology, Faculty of Medicine, Charles University in Prague and Motol University Hospital, 150 06 Prague, Czechia.
Jonas Van LentPeripheral Neuropathy Research Group, Department of Biomedical Sciences, Institute Born Bunge, University of Antwerp, 2160 Antwerp, Belgium.
Pedro J TomaselliDepartment of Neurosciences and Behaviour Sciences, Clinical Hospital of Ribeirão Preto, University of São Paulo, Ribeirão Preto, 14015-130, Brazil.ORCID 0000-0002-1485-3771
Martin UngelenkInstitute of Human Genetics, University Hospital Jena, 07747 Jena, Germany.
Karlien Y DebusCenter for Molecular Biomedicine Institute for Biophysics, Friedrich-Schiller Universität Jena, 07745 Jena, Germany.
Shawna M E FeelyDepartment of Neurology, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.
Dieter GläserCenter for Human Genetics, Genetikum®, 89231 Neu-Ulm, Germany.
Sujatha JagadeeshDepartment of Clinical Genetics and Genetic Counselling, Mediscan Systems, Chennai 600032, Tamilnadu, India.
Madelena MartinDavis and Davis Children's Hospital, University of California, Sacramento, CA 95817, USA.
Geeta M GovindarajDepartment of Pediatrics, Government Medical College, Kozhikode, Kerala 673 008, India.
Pratibha SinghiPediatric Neurology and Neurodevelopment, Medanta, The Medicity, Gurgaon, Haryana 122 001, India.
Revanth BaineniDepartment of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry 605 006, India.
Niranjan BiswalDepartment of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry 605 006, India.
Marisol Ibarra-RamírezGenetics Department, Hospital Universitario Dr. José Eleuterio González Universidad Autónoma de Nuevo León, 64460 Monterrey, Nuevo León, México.
Maryse BonduelleCentre for Medical Genetics, Universitair Ziekenhuis Brussel, 1090 Jette, Brussels, Belgium.
Burkhard GessDepartment of Neurology, Medical Faculty of the RWTH Aachen University, 52074 Aachen, Germany.
Juan Romero SánchezPediatría, Clínica Premium, 29601 Marbella, Spain.
Renu SutharPediatric Neurology and Neurodevelopment Unit, Department of Pediatrics, Advanced Pediatric Centre, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh 160 012, India.ORCID 0000-0003-4701-6168
Vrajesh UdaniDepartment of Child Neurology, PD Hinduja Hospital and Medical Research Centre, Mumbai, Maharashtra 400 016, India.
Atchayaram NaliniDepartment of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru 560 029, India.
Gopikrishnan UnnikrishnanDepartment of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru 560 029, India.
Wilson MarquesDepartment of Neurosciences and Behaviour Sciences, Clinical Hospital of Ribeirão Preto, University of São Paulo, Ribeirão Preto, 14015-130, Brazil.
Sandra MercierCHU Nantes, Service de Génétique Médicale, Centre de Référence des Maladies Neuromusculaires AOC, 44000 Nantes, France.
Vincent ProcaccioDepartment of Biochemistry and Genetics, MitoVasc Institute, UMR CNRS 6015- INSERM U1083, CHU Angers, 49055 Angers, France.
Céline BrisDepartment of Biochemistry and Genetics, MitoVasc Institute, UMR CNRS 6015- INSERM U1083, CHU Angers, 49055 Angers, France.
Beena SureshDepartment of Clinical Genetics and Genetic Counselling, Mediscan Systems, Chennai 600032, Tamilnadu, India.
Vaishnavi ReddyDepartment of Clinical Genetics and Genetic Counselling, Mediscan Systems, Chennai 600032, Tamilnadu, India.
Mariola SkorupinskaDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
Nathalie Bonello-PalotINSERM, MMG, U 1251, Marseille, France, Aix Marseille Univ, 13385 Marseille, France.ORCID 0000-0002-8657-1271
Fanny MochelGenetics Department, Sorbonne Université, Paris Brain Institute, APHP, INSERM, CNRS, 75013 Paris, France.
Georg DahlPediatric Neurology, Children's Hospital of the King's Daughters in Norfolk, Norfolk, VA 23507, USA.
Karthika SasidharanDepartment of Pediatrics, Government Medical College, Kozhikode, Kerala 673 008, India.
Fiji M DevassikuttyDepartment of Pediatrics, Government Medical College, Kozhikode, Kerala 673 008, India.
Sheela NampoothiriDepartment of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, Cochin, Kerala 682 041, India.
Maria J Rodovalho DoriquiDepartment of Genetics, Hospital Infantil Doutor Juvêncio Mattos, São Luis, Maranhão 65015-460, Brazil.
Wolfgang Müller-FelberDepartment of Neuropediatrics, Developmental Neurology and Social Pediatrics, LMU Campus Innenstadt, University of Munich, 80337 Munich, Germany.
Katharina VillDepartment of Pediatric Neurology and Developmental Medicine, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, 80337 Munich, Germany.
Tobias B HaackInstitute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.
Andreas DufkeInstitute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.
Michael AbeleNeurologie, Praxis für Neurologie und Schlafmedizin, 53359 Rheinbach, Germany.
Rolf StuckaFriedrich Baur Institute at the Department of Neurology, LMU University Hospital, LMU Munich, 80336 Munich, Germany.
Saima SiddiqiGenomics Group, Institute of Biomedical and Genetic Engineering (IBGE), Islamabad 44000, Pakistan.
Noor UllahInstitute for Paramedical Sciences, Khyber Medical University, Peshawar, KPK 25100, Pakistan.
Stephanie SprangerMVZ Humangenetik Bremen, Limbach Genetics, 28209 Bremen, Germany.
Deborah ChiabrandoDepartment of Molecular Biotechnology and Health Sciences, Molecular Biotechnology Center 'Guido Tarone', University of Torino, 10124 Turin, Italy.
Behiye S BolgülDepartment of Pedodontics, Faculty of Dentistry, Dicle University, 21200 Diyarbakir, Turkey.
Yesim ParmanNeuromuscular Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34093 Istanbul, Turkey.
Pavel SeemanDepartment of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, 150 06 Praha, Czechia.
Angelika LampertInstitute of Neurophysiology, Medical Faculty, Uniklinik RWTH Aachen University, 52074 Aachen, Germany.ORCID 0000-0001-6319-6272
Jörg B SchulzDepartment of Neurology, Medical Faculty of the RWTH Aachen University, 52074 Aachen, Germany.
John N WoodMolecular Nociception Group, Wolfson Institute for Biomedical Research, University College London, London WC1E 6BT, UK.
James J CoxMolecular Nociception Group, Wolfson Institute for Biomedical Research, University College London, London WC1E 6BT, UK.ORCID 0000-0002-9129-8011
Michaela Auer-GrumbachDepartment of Orthopedics and Trauma Surgery, Medical University of Vienna, 1090 Vienna, Austria.
Vincent TimmermanPeripheral Neuropathy Research Group, Department of Biomedical Sciences, Institute Born Bunge, University of Antwerp, 2160 Antwerp, Belgium.ORCID 0000-0002-2162-0933
Jonathan de WinterTranslational Neurosciences and Institute Born Bunge, Faculty of Medicine and Health Sciences, University of Antwerp, 2610 Antwerp, Belgium.
Andreas C ThemistocleousNuffield Department of Clinical Neuroscience, University of Oxford, Oxford OX3 9DU, UK.ORCID 0000-0002-1089-1543
Michael ShyDepartment of Neurology, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.
David L BennettNuffield Department of Clinical Neuroscience, University of Oxford, Oxford OX3 9DU, UK.ORCID 0000-0002-7996-2696
Jonathan BaetsTranslational Neurosciences and Institute Born Bunge, Faculty of Medicine and Health Sciences, University of Antwerp, 2610 Antwerp, Belgium.
Christian A HübnerInstitute of Human Genetics, University Hospital Jena, 07747 Jena, Germany.
Enrico LeipoldDepartment of Anesthesiology and Intensive Care and CBBM-Center of Brain, Behavior and Metabolism, University of Luebeck, 23562 Luebeck, Germany.
Stephan ZüchnerDr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL 33136, USA.
Miriam ElbrachtInstitute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany.
Arman ÇakarNeuromuscular Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34093 Istanbul, Turkey.ORCID 0000-0002-8129-4172
Jan SenderekFriedrich Baur Institute at the Department of Neurology, LMU University Hospital, LMU Munich, 80336 Munich, Germany.
Thorsten HornemannDepartment of Clinical Chemistry, University Hospital Zurich, University of Zurich, 8006 Zurich, Switzerland.ORCID 0000-0002-4218-1087
C Geoffrey WoodsCambridge Institute for Medical Research, Keith Peters Building, Cambridge Biomedical Campus, Cambridge CB2 0XY, UK.
Mary M ReillyDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.ORCID 0000-0003-0686-905X
Ingo KurthInstitute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany.
Funding
Austrian Science Fund FWF I 4699Medical Research Council MC_PC_21048Medical Research Council MR/R011737/1Medical Research Council MR/T020113/1Medical Research Council MR/W002388/1Medical Research Council MR/W002426/1Swiss National Science FoundationVersus Arthritis 21950Versus Arthritis MR/W002388/1Wellcome TrustWellcome Trust 200183/Z/15/Z
Abstract
Congenital insensitivity to pain (CIP) and hereditary sensory and autonomic neuropathies (HSAN) are clinically and genetically heterogeneous disorders exclusively or predominantly affecting the sensory and autonomic neurons. Due to the rarity of the diseases and findings based mainly on single case reports or small case series, knowledge about these disorders is limited. Here, we describe the molecular workup of a large international cohort of CIP/HSAN patients including patients from normally under-represented countries. We identify 80 previously unreported pathogenic or likely pathogenic variants in a total of 73 families in the >20 known CIP/HSAN-associated genes. The data expand the spectrum of disease-relevant alterations in CIP/HSAN, including novel variants in previously rarely recognized entities such as ATL3-, FLVCR1- and NGF-associated neuropathies and previously under-recognized mutation types such as larger deletions. In silico predictions, heterologous expression studies, segregation analyses and metabolic tests helped to overcome limitations of current variant classification schemes that often fail to categorize a variant as disease-related or benign. The study sheds light on the genetic causes and disease-relevant changes within individual genes in CIP/HSAN. This is becoming increasingly important with emerging clinical trials investigating subtype or gene-specific treatment strategies.
Indexed as
Hereditary Sensory and Autonomic NeuropathiesPain Insensitivity, CongenitalChannelopathiesHumansMutationCIPgeneticsHSANHSNneuropathiespain
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