Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.

Autor:	Lischka A; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany., Eggermann K; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany., Record CJ; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Dohrn MF; Department of Neurology, Medical Faculty of the RWTH Aachen University, 52074 Aachen, Germany.; Dr. 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., Laššuthová P; Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, 150 06 Praha, Czechia., Kraft F; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany., Begemann M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany., Dey D; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany., Eggermann T; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany., Beijer D; Dr. 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., Šoukalová J; Department of Medical Genetics, University Hospital Brno, 625 00 Brno, Czechia., Laura M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Rossor AM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Mazanec R; Department of Neurology, Faculty of Medicine, Charles University in Prague and Motol University Hospital, 150 06 Prague, Czechia., Van Lent J; Peripheral Neuropathy Research Group, Department of Biomedical Sciences, Institute Born Bunge, University of Antwerp, 2160 Antwerp, Belgium., Tomaselli PJ; Department of Neurosciences and Behaviour Sciences, Clinical Hospital of Ribeirão Preto, University of São Paulo, Ribeirão Preto, 14015-130, Brazil., Ungelenk M; Institute of Human Genetics, University Hospital Jena, 07747 Jena, Germany., Debus KY; Center for Molecular Biomedicine Institute for Biophysics, Friedrich-Schiller Universität Jena, 07745 Jena, Germany., Feely SME; Department of Neurology, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.; Division of Pediatric Neurology, Seattle Children's Hospital, University of Washington School of Medicine, Seattle, WA 98105, USA., Gläser D; Center for Human Genetics, Genetikum®, 89231 Neu-Ulm, Germany., Jagadeesh S; Department of Clinical Genetics and Genetic Counselling, Mediscan Systems, Chennai 600032, Tamilnadu, India., Martin M; Davis and Davis Children's Hospital, University of California, Sacramento, CA 95817, USA., Govindaraj GM; Department of Pediatrics, Government Medical College, Kozhikode, Kerala 673 008, India., Singhi P; Pediatric Neurology and Neurodevelopment, Medanta, The Medicity, Gurgaon, Haryana 122 001, India., Baineni R; Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry 605 006, India., Biswal N; Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry 605 006, India., Ibarra-Ramírez M; Genetics Department, Hospital Universitario Dr. José Eleuterio González Universidad Autónoma de Nuevo León, 64460 Monterrey, Nuevo León, México., Bonduelle M; Centre for Medical Genetics, Universitair Ziekenhuis Brussel, 1090 Jette, Brussels, Belgium., Gess B; Department of Neurology, Medical Faculty of the RWTH Aachen University, 52074 Aachen, Germany.; Department of Neurology, University Hospital, Evangelisches Klinikum Bethel, University of Bielefeld, 33617 Bielefeld, Germany., Romero Sánchez J; Pediatría, Clínica Premium, 29601 Marbella, Spain., Suthar R; Pediatric Neurology and Neurodevelopment Unit, Department of Pediatrics, Advanced Pediatric Centre, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh 160 012, India., Udani V; Department of Child Neurology, PD Hinduja Hospital and Medical Research Centre, Mumbai, Maharashtra 400 016, India., Nalini A; Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru 560 029, India., Unnikrishnan G; Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru 560 029, India., Marques W Junior; Department of Neurosciences and Behaviour Sciences, Clinical Hospital of Ribeirão Preto, University of São Paulo, Ribeirão Preto, 14015-130, Brazil., Mercier S; CHU Nantes, Service de Génétique Médicale, Centre de Référence des Maladies Neuromusculaires AOC, 44000 Nantes, France., Procaccio V; Department of Biochemistry and Genetics, MitoVasc Institute, UMR CNRS 6015- INSERM U1083, CHU Angers, 49055 Angers, France., Bris C; Department of Biochemistry and Genetics, MitoVasc Institute, UMR CNRS 6015- INSERM U1083, CHU Angers, 49055 Angers, France., Suresh B; Department of Clinical Genetics and Genetic Counselling, Mediscan Systems, Chennai 600032, Tamilnadu, India., Reddy V; Department of Clinical Genetics and Genetic Counselling, Mediscan Systems, Chennai 600032, Tamilnadu, India., Skorupinska M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Bonello-Palot N; INSERM, MMG, U 1251, Marseille, France, Aix Marseille Univ, 13385 Marseille, France., Mochel F; Genetics Department, Sorbonne Université, Paris Brain Institute, APHP, INSERM, CNRS, 75013 Paris, France., Dahl G; Pediatric Neurology, Children's Hospital of the King's Daughters in Norfolk, Norfolk, VA 23507, USA., Sasidharan K; Department of Pediatrics, Government Medical College, Kozhikode, Kerala 673 008, India., Devassikutty FM; Department of Pediatrics, Government Medical College, Kozhikode, Kerala 673 008, India., Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, Cochin, Kerala 682 041, India., Rodovalho Doriqui MJ; Department of Genetics, Hospital Infantil Doutor Juvêncio Mattos, São Luis, Maranhão 65015-460, Brazil., Müller-Felber W; Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, LMU Campus Innenstadt, University of Munich, 80337 Munich, Germany., Vill K; Department of Pediatric Neurology and Developmental Medicine, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, 80337 Munich, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, 81675 Munich, Germany., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany., Dufke A; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany., Abele M; Neurologie, Praxis für Neurologie und Schlafmedizin, 53359 Rheinbach, Germany., Stucka R; Friedrich Baur Institute at the Department of Neurology, LMU University Hospital, LMU Munich, 80336 Munich, Germany., Siddiqi S; Genomics Group, Institute of Biomedical and Genetic Engineering (IBGE), Islamabad 44000, Pakistan., Ullah N; Institute for Paramedical Sciences, Khyber Medical University, Peshawar, KPK 25100, Pakistan., Spranger S; MVZ Humangenetik Bremen, Limbach Genetics, 28209 Bremen, Germany., Chiabrando D; Department of Molecular Biotechnology and Health Sciences, Molecular Biotechnology Center 'Guido Tarone', University of Torino, 10124 Turin, Italy., Bolgül BS; Department of Pedodontics, Faculty of Dentistry, Dicle University, 21200 Diyarbakir, Turkey., Parman Y; Neuromuscular Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34093 Istanbul, Turkey., Seeman P; Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, 150 06 Praha, Czechia., Lampert A; Institute of Neurophysiology, Medical Faculty, Uniklinik RWTH Aachen University, 52074 Aachen, Germany., Schulz JB; Department of Neurology, Medical Faculty of the RWTH Aachen University, 52074 Aachen, Germany.; JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging, Research Centre Jülich GmbH, and RWTH Aachen University, 52056 Aachen, Germany., Wood JN; Molecular Nociception Group, Wolfson Institute for Biomedical Research, University College London, London WC1E 6BT, UK., Cox JJ; Molecular Nociception Group, Wolfson Institute for Biomedical Research, University College London, London WC1E 6BT, UK., Auer-Grumbach M; Department of Orthopedics and Trauma Surgery, Medical University of Vienna, 1090 Vienna, Austria., Timmerman V; Peripheral Neuropathy Research Group, Department of Biomedical Sciences, Institute Born Bunge, University of Antwerp, 2160 Antwerp, Belgium., de Winter J; Translational Neurosciences and Institute Born Bunge, Faculty of Medicine and Health Sciences, University of Antwerp, 2610 Antwerp, Belgium.; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, 2610 Antwerp, Belgium., Themistocleous AC; Nuffield Department of Clinical Neuroscience, University of Oxford, Oxford OX3 9DU, UK., Shy M; Department of Neurology, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA., Bennett DL; Nuffield Department of Clinical Neuroscience, University of Oxford, Oxford OX3 9DU, UK., Baets J; Translational Neurosciences and Institute Born Bunge, Faculty of Medicine and Health Sciences, University of Antwerp, 2610 Antwerp, Belgium.; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, 2610 Antwerp, Belgium., Hübner CA; Institute of Human Genetics, University Hospital Jena, 07747 Jena, Germany., Leipold E; Department of Anesthesiology and Intensive Care and CBBM-Center of Brain, Behavior and Metabolism, University of Luebeck, 23562 Luebeck, Germany., Züchner S; Dr. 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., Elbracht M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany., Çakar A; Neuromuscular Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34093 Istanbul, Turkey., Senderek J; Friedrich Baur Institute at the Department of Neurology, LMU University Hospital, LMU Munich, 80336 Munich, Germany., Hornemann T; Department of Clinical Chemistry, University Hospital Zurich, University of Zurich, 8006 Zurich, Switzerland., Woods CG; Cambridge Institute for Medical Research, Keith Peters Building, Cambridge Biomedical Campus, Cambridge CB2 0XY, UK., Reilly MM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Kurth I; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany.
Jazyk:	angličtina
Zdroj:	Brain : a journal of neurology [Brain] 2023 Dec 01; Vol. 146 (12), pp. 4880-4890.
DOI:	10.1093/brain/awad328
Abstrakt:	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. (© The Author(s) 2023. Published by Oxford University Press on behalf of the Guarantors of Brain.)
Databáze:	MEDLINE
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