{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T13:07:20Z","timestamp":1790773640524,"version":"4.1.0"},"reference-count":29,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2021,7,1]],"date-time":"2021-07-01T00:00:00Z","timestamp":1625097600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Yves Cotrel Fundation, Institut de France","award":["Yves Cotrel 2016"],"award-info":[{"award-number":["Yves Cotrel 2016"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Adolescent idiopathic scoliosis (AIS) is a complex common disorder of multifactorial etiology defined by a deviation of the spine in three dimensions that affects approximately 2% to 4% of adolescents. Risk factors include other affected family members, suggesting a genetic component to the disease. The POC5 gene was identified as one of the first ciliary candidate genes for AIS, as three variants were identified in large families with multiple members affected with idiopathic scoliosis. To assess the prevalence of p.(A429V), p.(A446T), and p.(A455P) POC5 variants in patients with AIS, we used next-generation sequencing in our cohort of French-Canadian and British families and sporadic cases. Our study highlighted a prevalence of 13% for POC5 variants, 7.5% for p.(A429V), and 6.4% for p.(A446T). These results suggest a higher prevalence of the aforementioned POC5 coding variants in patients with AIS compared to the general population.<\/jats:p>","DOI":"10.3390\/genes12071032","type":"journal-article","created":{"date-parts":[[2021,7,1]],"date-time":"2021-07-01T12:03:27Z","timestamp":1625141007000},"page":"1032","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Prevalence of POC5 Coding Variants in French-Canadian and British AIS Cohort"],"prefix":"10.3390","volume":"12","author":[{"given":"H\u00e9l\u00e8ne","family":"Mathieu","sequence":"first","affiliation":[{"name":"CHU Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aur\u00e9lia","family":"Spataru","sequence":"additional","affiliation":[{"name":"CHU Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8397-465X","authenticated-orcid":false,"given":"Jos\u00e9 Antonio","family":"Aragon-Martin","sequence":"additional","affiliation":[{"name":"National Heart and Lung Institute (NHLI), Imperial College, Guy Scadding Building, London SW3 6LY, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Child","sequence":"additional","affiliation":[{"name":"Marfan Trust, National Heart and Lung Institute (NHLI), Imperial College, Guy Scadding Building, London SW3 6LY, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soraya","family":"Barchi","sequence":"additional","affiliation":[{"name":"CHU Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carole","family":"Fortin","sequence":"additional","affiliation":[{"name":"\u00c9cole de R\u00e9adaptation, Facult\u00e9 de M\u00e9decine, Universit\u00e9 de Montr\u00e9al, Montreal, QC H3C 3J7, Canada"},{"name":"Centre de Recherche, CHU Sainte-Justine, Montreal, QC H1T1C5, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"Parent","sequence":"additional","affiliation":[{"name":"CHU Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada"},{"name":"Faculty of Surgery, Universit\u00e9 de Montr\u00e9al, Montreal, QC H3T 1J4, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3028-672X","authenticated-orcid":false,"given":"Florina","family":"Moldovan","sequence":"additional","affiliation":[{"name":"CHU Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada"},{"name":"Faculty of Dentistry, Universit\u00e9 de Montr\u00e9al, Montreal, QC H3T 1J4, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,7,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"865","DOI":"10.1038\/ejhg.2011.31","article-title":"New disease gene location and high genetic heterogeneity in idiopathic scoliosis","volume":"19","author":"Edery","year":"2011","journal-title":"Eur. 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