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The elucidation of its etiology will improve clinical management and the quality of life of patients. Genes for vestibular dysfunction were previously identified in patients with both hearing loss and vertigo. This study aimed to identify rare, coding variants in children with peripheral vertigo but no hearing loss, and in patients with potentially overlapping phenotypes, namely, Meniere\u2019s disease or idiopathic scoliosis. Rare variants were selected from the exome sequence data of 5 American children with vertigo, 226 Spanish patients with Meniere\u2019s disease, and 38 European\u2013American probands with scoliosis. In children with vertigo, 17 variants were found in 15 genes involved in migraine, musculoskeletal phenotypes, and vestibular development. Three genes, OTOP1, HMX3, and LAMA2, have knockout mouse models for vestibular dysfunction. Moreover, HMX3 and LAMA2 were expressed in human vestibular tissues. Rare variants within ECM1, OTOP1, and OTOP2 were each identified in three adult patients with Meniere\u2019s disease. Additionally, an OTOP1 variant was identified in 11 adolescents with lateral semicircular canal asymmetry, 10 of whom have scoliosis. We hypothesize that peripheral vestibular dysfunction in children may be due to multiple rare variants within genes that are involved in the inner ear structure, migraine, and musculoskeletal disease.<\/jats:p>","DOI":"10.3390\/genes14040831","type":"journal-article","created":{"date-parts":[[2023,3,30]],"date-time":"2023-03-30T04:45:35Z","timestamp":1680151535000},"page":"831","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Rare Coding Variants in Patients with Non-Syndromic Vestibular Dysfunction"],"prefix":"10.3390","volume":"14","author":[{"given":"Angelo Augusto M.","family":"Sumalde","sequence":"first","affiliation":[{"name":"Department of Otolaryngology-Head and Neck Surgery, School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA"},{"name":"Department of Otolaryngology-Head and Neck Surgery, University of the Philippines Manila College of Medicine, Philippine General Hospital, Manila 1000, Philippines"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melissa A.","family":"Scholes","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology-Head and Neck Surgery, School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA"},{"name":"Department of Pediatric Otolaryngology, Children\u2019s Hospital Colorado, Aurora, CO 80045, USA"},{"name":"Department of Otolaryngology-Head and Neck Surgery, University of Mississippi Medical Center, Jackson, MS 39216, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0130-0684","authenticated-orcid":false,"given":"Olivia A.","family":"Kalmanson","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology-Head and Neck Surgery, School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth A.","family":"Terhune","sequence":"additional","affiliation":[{"name":"Department of Orthopedics, School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6104-0941","authenticated-orcid":false,"given":"Lidia","family":"Frejo","sequence":"additional","affiliation":[{"name":"Otology and Neurotology Group CTS495, Department of Genomic Medicine, GENYO-Centre for Genomics and Oncological Research-Pfizer-University of Granada-Junta de Andalucia, PTS, 18016 Granada, Spain"},{"name":"Division of Otolaryngology, Department of Surgery, Instituto de Investigaci\u00f3n Biosanitaria, ibs.GRANADA, Universidad de Granada, 18071 Granada, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cambria I.","family":"Wethey","sequence":"additional","affiliation":[{"name":"Department of Orthopedics, School of Medicine, University of Colorado Anschutz Medical 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USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samuel P.","family":"Gubbels","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology-Head and Neck Surgery, School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8583-1430","authenticated-orcid":false,"given":"Jose A.","family":"Lopez-Escamez","sequence":"additional","affiliation":[{"name":"Otology and Neurotology Group CTS495, Department of Genomic Medicine, GENYO-Centre for Genomics and Oncological Research-Pfizer-University of Granada-Junta de Andalucia, PTS, 18016 Granada, Spain"},{"name":"Division of Otolaryngology, Department of Surgery, Instituto de Investigaci\u00f3n Biosanitaria, ibs.GRANADA, Universidad de Granada, 18071 Granada, Spain"},{"name":"Meniere\u2019s Disease Neuroscience Research Program, Faculty of Medicine & Health, School of Medical Sciences, The Kolling Institute, University of Sydney, Sydney, NSW 2006, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nancy","family":"Hadley-Miller","sequence":"additional","affiliation":[{"name":"Department of Orthopedics, School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA"},{"name":"Musculoskeletal Research Center, Children\u2019s Hospital Colorado, Aurora, CO 80045, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Regie Lyn P.","family":"Santos-Cortez","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology-Head and Neck Surgery, School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA"},{"name":"Center for Children\u2019s Surgery, Children\u2019s Hospital Colorado, Aurora, CO 80045, 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