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Despite progress in genetic sequencing, for around a quarter of patients the disease has lacked a genetic explanation. Here, we identified 16 recessive variants in the RhoGTPase activating protein 19 gene (\n                    <jats:italic>ARHGAP19<\/jats:italic>\n                    ) causing motor-predominant neuropathy in 25 individuals from 20 unrelated families. The ARHGAP19 protein acts as a negative regulator of the RhoA GTPase. In vitro biochemical and cellular assays revealed that patient variants impair the GTPase-activating protein (GAP) activity of ARHGAP19 and reduce ARHGAP19 protein levels. Through the use of patient lines, in vitro GAP assays and in silico molecular modeling, we provided evidence that CMT-associated ARHGAP19 variants act through a loss-of-function (LOF) mechanism. LOF in ARHGAP19 orthologues in\n                    <jats:italic>Drosophila melanogaster<\/jats:italic>\n                    and\n                    <jats:italic>Danio rerio<\/jats:italic>\n                    induced motor defects in axonal and synaptic morphology. Similar cellular phenotypes were observed in ARHGAP19 patient-derived motoneurons. Transcriptomic studies further demonstrated that ARHGAP19 regulates cellular pathways associated with motor proteins and the cell cycle. Taken together, our findings establish\n                    <jats:italic>ARHGAP19<\/jats:italic>\n                    variants as a cause of inherited neuropathy acting through a LOF mechanism.\n                  <\/jats:p>","DOI":"10.1172\/jci184474","type":"journal-article","created":{"date-parts":[[2025,10,14]],"date-time":"2025-10-14T16:00:29Z","timestamp":1760457629000},"source":"Crossref","is-referenced-by-count":1,"title":["Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy"],"prefix":"10.1172","volume":"135","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7476-6605","authenticated-orcid":true,"given":"Natalia","family":"Dominik","sequence":"first","affiliation":[{"name":"Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Efthymiou","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher J.","family":"Record","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinyu","family":"Miao","sequence":"additional","affiliation":[{"name":"Department of Anatomy and Cell Biology, McGill University, Montr\u00e9al, Quebec, Canada."},{"name":"Cancer Research Program, Research Institute of the McGill University Health Center, Montr\u00e9al, Quebec, Canada."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renee Q.","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jevin M.","family":"Parmar","sequence":"additional","affiliation":[{"name":"Harry Perkins Institute of Medical Research, Center for Medical Research, University of Western Australia, Perth, Western Australia, Australia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-6013-4819","authenticated-orcid":true,"given":"Annarita","family":"Scardamaglia","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reza","family":"Maroofian","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon A.","family":"Lowe","sequence":"additional","affiliation":[{"name":"Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriel N.","family":"Aughey","sequence":"additional","affiliation":[{"name":"Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abigail D.","family":"Wilson","sequence":"additional","affiliation":[{"name":"Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riccardo","family":"Curro","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom."},{"name":"Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ricardo P.","family":"Schnekenberg","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shahryar","family":"Alavi","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leif","family":"Leclaire","sequence":"additional","affiliation":[{"name":"Department of Anatomy and Cell Biology, McGill University, Montr\u00e9al, Quebec, Canada."},{"name":"Cancer Research Program, Research Institute of the McGill University Health Center, Montr\u00e9al, Quebec, Canada."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi","family":"He","sequence":"additional","affiliation":[{"name":"Department of Anatomy and Cell Biology, McGill University, Montr\u00e9al, Quebec, Canada."},{"name":"Cancer Research Program, Research Institute of the McGill University Health Center, Montr\u00e9al, Quebec, Canada."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristina","family":"Zhelcheska","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yohanns","family":"Bella\u00efche","sequence":"additional","affiliation":[{"name":"Institut Curie, Universit\u00e9 PSL, Sorbonne Universit\u00e9, CNRS UMR3215, INSERM U934, Genetics and Developmental Biology, 75005 Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Gaugu\u00e9","sequence":"additional","affiliation":[{"name":"Institut Curie, Universit\u00e9 PSL, Sorbonne Universit\u00e9, CNRS UMR3215, INSERM U934, Genetics and Developmental Biology, 75005 Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariola","family":"Skorupinska","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liedewei","family":"Van de Vondel","sequence":"additional","affiliation":[{"name":"Translational Neurosciences, Faculty of Medicine and Health Sciences, and"},{"name":"Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3438-5028","authenticated-orcid":true,"given":"Sahar I.","family":"Da\u2019as","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Sidra Medicine, Doha, Qatar."},{"name":"College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Turchetti","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serdal","family":"G\u00fcng\u00f6r","sequence":"additional","affiliation":[{"name":"Inonu University, Faculty of Medicine, Turgut Ozal Research Center, Department of Pediatric Neurology, Malatya, Turkey."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gavin V.","family":"Monahan","sequence":"additional","affiliation":[{"name":"Harry Perkins Institute of Medical Research, Center for Medical Research, University of Western Australia, Perth, Western Australia, Australia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ehsan","family":"Ghayoor Karimiani","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom."},{"name":"Department of Molecular & Biomedical Sciences, City St George\u2019s University of London, United Kingdom."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0151-6482","authenticated-orcid":true,"given":"Yalda","family":"Jamshidi","sequence":"additional","affiliation":[{"name":"Department of Molecular & Biomedical Sciences, City St George\u2019s University of London, United Kingdom."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Phillipa J.","family":"Lamont","sequence":"additional","affiliation":[{"name":"Royal Perth Hospital, Perth, Western Australia, Australia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camila","family":"Armirola-Ricaurte","sequence":"additional","affiliation":[{"name":"Molecular Neurogenomics group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium."},{"name":"Molecular Neurogenomics group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haluk","family":"Topaloglu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albena","family":"Jordanova","sequence":"additional","affiliation":[{"name":"Molecular Neurogenomics group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium."},{"name":"Molecular Neurogenomics group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium."},{"name":"Department of Medical Chemistry and Biochemistry, Medical University-Sofia, Sofia, Bulgaria."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mashaya","family":"Zaman","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Dhaka, Bangladesh."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Selina H.","family":"Banu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Dhaka, Bangladesh."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wilson","family":"Marques","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, School of Medicine of Ribeir\u00e3o Preto, University of S\u00e3o Paulo, S\u00e3o Paulo, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pedro J.","family":"Tomaselli","sequence":"additional","affiliation":[{"name":"Clinical Hospital of Ribeir\u00e3o Preto, Department of Neurosciences and Behaviour Sciences, University of S\u00e3o Paulo, Ribeir\u00e3o Preto, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Busra","family":"Aynekin","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom."},{"name":"Department of Molecular Biology and Genetics, Biruni University,  Istanbul, Turkey."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali","family":"Cansu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Faculty of Medicine, Farabi Hospital, Karadeniz Technical University, Trabzon, Turkey."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huseyin","family":"Per","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayten","family":"G\u00fcle\u00e7","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Javeria Raza","family":"Alvi","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital & the Institute of Child Health, Lahore, Pakistan."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tipu","family":"Sultan","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital & the Institute of Child Health, Lahore, Pakistan."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arif","family":"Khan","sequence":"additional","affiliation":[{"name":"Neuropedia Children\u2019s Neuroscience Center, Dubai, United Arab Emirates."},{"name":"Fakeeh University Hospital, Dubai, United Arab Emirates."},{"name":"Kids Neuro Clinic, Dubai, United Arab Emirates."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Zifarelli","sequence":"additional","affiliation":[{"name":"CENTOGENE GmbH, Rostock, Germany."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shahnaz","family":"Ibrahim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grazia M. S.","family":"Mancini","sequence":"additional","affiliation":[{"name":"Department of Neurology, Erasmus MC University Medical Center, Rotterdam, Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.M.","family":"Motazacker","sequence":"additional","affiliation":[{"name":"Laboratory of Genome Diagnostics, Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther","family":"Brusse","sequence":"additional","affiliation":[{"name":"Department of Neurology, Erasmus MC University Medical Center, Rotterdam, Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincenzo","family":"Lupo","sequence":"additional","affiliation":[{"name":"Rare Neurodegenerative Diseases Laboratory, Centro de Investigaci\u00f3n Pr\u00edncipe Felipe (CIPF), Valencia, Spain."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa","family":"Sevilla","sequence":"additional","affiliation":[{"name":"Hospital Universitari i Polit\u00e8cnic La Fe & IIS La Fe, Neuromuscular Diseases Unit, Department of Neurology, Valencia, Spain."},{"name":"Universitat de Val\u00e8ncia, Valencia, Spain."},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Madrid, Spain."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. Nazli","family":"Ba\u015fak","sequence":"additional","affiliation":[{"name":"Suna and \u0130nan K\u0131ra\u00e7 Foundation, Neurodegeneration Research Laboratory (NDAL), Research Center for Translational Medicine (KUTTAM), Ko\u00e7 University School of Medicine, Istanbul, Turkey."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seyma","family":"Tekgul","sequence":"additional","affiliation":[{"name":"Suna and \u0130nan K\u0131ra\u00e7 Foundation, Neurodegeneration Research Laboratory (NDAL), Research Center for Translational Medicine (KUTTAM), Ko\u00e7 University School of Medicine, Istanbul, Turkey."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robin J.","family":"Palvadeau","sequence":"additional","affiliation":[{"name":"Suna and \u0130nan K\u0131ra\u00e7 Foundation, Neurodegeneration Research Laboratory (NDAL), Research Center for Translational Medicine (KUTTAM), Ko\u00e7 University School of Medicine, Istanbul, Turkey."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8295-5385","authenticated-orcid":true,"given":"Jonathan","family":"Baets","sequence":"additional","affiliation":[{"name":"Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium."},{"name":"Neuromuscular Reference Center, Department of Neurology, Antwerp University Hospital, Antwerp, Belgium."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yesim","family":"Parman","sequence":"additional","affiliation":[{"name":"Neurology Department, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arman","family":"\u00c7akar","sequence":"additional","affiliation":[{"name":"Neurology Department, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9841-170X","authenticated-orcid":true,"given":"Rita","family":"Horvath","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom."},{"name":"Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, School of Clinical Medicine, University of Cambridge, Cambridge, United Kingdom."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tobias B.","family":"Haack","sequence":"additional","affiliation":[{"name":"Center for Rare Disease,"},{"name":"Institute of Medical Genetics and Applied Genomics,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan-Hendrik","family":"Stahl","sequence":"additional","affiliation":[{"name":"Department of Epileptology, Center of Neurology, and"},{"name":"Hertie Institute for Clinical Brain Research, University of T\u00fcbingen, T\u00fcbingen, Germany."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathrin","family":"Grundmann-Hauser","sequence":"additional","affiliation":[{"name":"Center for Rare Disease,"},{"name":"Institute of Medical Genetics and Applied Genomics,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joohyun","family":"Park","sequence":"additional","affiliation":[{"name":"Center for Rare Disease,"},{"name":"Institute of Medical Genetics and Applied Genomics,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Zuchner","sequence":"additional","affiliation":[{"name":"John P. Hussman Institute for Human Genomics and"},{"name":"Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nigel G.","family":"Laing","sequence":"additional","affiliation":[{"name":"Harry Perkins Institute of Medical Research, Center for Medical Research, University of Western Australia, Perth, Western Australia, Australia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lindsay A.","family":"Wilson","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander M.","family":"Rossor","sequence":"additional","affiliation":[{"name":"Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United 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