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This study aims to report COX18 as a novel CMT-causing gene. This gene encodes an assembly factor of mitochondrial Complex IV that translocates the C-terminal tail of MTCO2 across the mitochondrial inner membrane.<\/jats:p>\n                  <jats:p>Exome sequencing was performed in four affected individuals from three families. The patients and available family members underwent thorough neurological and electrophysiological assessment. The impact of one of the identified variants on splicing, protein levels and mitochondrial bioenergetics was investigated in patient-derived lymphoblasts. The functionality of the mutant protein was assessed using a proteinase K protection assay and immunoblotting. Neuronal relevance of COX18 was assessed in a Drosophila melanogaster knockdown model.<\/jats:p>\n                  <jats:p>Exome sequencing coupled with homozygosity mapping revealed a homozygous splice variant c.435\u20136A&amp;gt;G in COX18 in two siblings with early-onset progressive axonal sensorimotor peripheral neuropathy. By querying external databases, we identified two additional families with rare deleterious biallelic variants in COX18. All eight affected individuals presented with axonal CMT, and some patients also exhibited CNS symptoms, such as dystonia and spasticity. Functional characterization of the c.435-6A&amp;gt;G variant demonstrated that it leads to the expression of an alternative transcript that lacks exon 2, resulting in a stable but defective COX18 isoform. The mutant protein impairs Complex IV assembly and activity, leading to a reduction in mitochondrial membrane potential. Downregulation of the COX18 homologue in D. melanogaster resulted in signs of neurodegeneration, including locomotor deficit and progressive axonal degeneration of sensory neurons.<\/jats:p>\n                  <jats:p>Our study presents genetic and functional evidence that supports COX18 as a newly identified gene candidate for autosomal recessive axonal CMT with or without CNS involvement. These findings emphasize the significance of peripheral neuropathy within the spectrum of primary mitochondrial disorders, in addition to the role of mitochondrial Complex IV in the development of CMT. Our research has important implications for the diagnostic work-up of CMT patients.<\/jats:p>","DOI":"10.1093\/brain\/awaf300","type":"journal-article","created":{"date-parts":[[2025,8,13]],"date-time":"2025-08-13T11:49:35Z","timestamp":1755085775000},"page":"178-193","source":"Crossref","is-referenced-by-count":0,"title":["Biallelic variants in\n                    <i>COX18<\/i>\n                    cause a mitochondrial disorder primarily manifesting as peripheral neuropathy"],"prefix":"10.1093","volume":"149","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5648-1857","authenticated-orcid":false,"given":"Camila","family":"Armirola-Ricaurte","sequence":"first","affiliation":[{"name":"Molecular Neurogenomics Group, VIB Center for Molecular Neurology, VIB , Antwerp 2610 ,","place":["Belgium"]},{"name":"Molecular Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp , Antwerp 2610 ,","place":["Belgium"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Morant","sequence":"additional","affiliation":[{"name":"Molecular Neurogenomics Group, VIB Center for Molecular Neurology, VIB , Antwerp 2610 ,","place":["Belgium"]},{"name":"Molecular Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp , Antwerp 2610 ,","place":["Belgium"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabelle","family":"Adant","sequence":"additional","affiliation":[{"name":"Laboratory of Hepatology, Department of Chronic Diseases, Metabolism and Ageing, Katholieke Universiteit Leuven , Leuven 3000 ,","place":["Belgium"]},{"name":"Department of Pediatrics, University Hospitals Leuven , Leuven 3000 ,","place":["Belgium"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sherifa A","family":"Hamed","sequence":"additional","affiliation":[{"name":"Department of Neurology and Psychiatry, Assiut University Hospitals , Assiut 2074020 ,","place":["Egypt"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0511-6515","authenticated-orcid":false,"given":"Menelaos","family":"Pipis","sequence":"additional","affiliation":[{"name":"Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology , London WC1N 3BG ,","place":["UK"]},{"name":"Neuropathology Department and Center for Neuromuscular Disorders, The Cyprus Institute of Neurology and Genetics , Nicosia 2371 ,","place":["Cyprus"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4900-9877","authenticated-orcid":false,"given":"Stephanie","family":"Efthymiou","sequence":"additional","affiliation":[{"name":"Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology , London WC1N 3BG ,","place":["UK"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvia","family":"Amor-Barris","sequence":"additional","affiliation":[{"name":"Molecular Neurogenomics Group, VIB Center for Molecular Neurology, VIB , Antwerp 2610 ,","place":["Belgium"]},{"name":"Molecular Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp , Antwerp 2610 ,","place":["Belgium"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Derek","family":"Atkinson","sequence":"additional","affiliation":[{"name":"Molecular Neurogenomics Group, VIB Center for Molecular Neurology, VIB , Antwerp 2610 ,","place":["Belgium"]},{"name":"Molecular Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp , Antwerp 2610 ,","place":["Belgium"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2214-5908","authenticated-orcid":false,"given":"Liedewei","family":"Van de 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Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine , Miami, FL 33136 ,","place":["USA"]},{"name":"John P. 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