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Adolescent idiopathic scoliosis (AIS) affects around 3% of the general population. In a 5-generation UK family, linkage analysis identified the locus <jats:italic>9q31.2-q34.2<\/jats:italic> as a candidate region for AIS; however, the causative gene remained unidentified. Here, using exome sequencing we identified a rare insertion c.1569_1570insTT in the tubulin tyrosine ligase like gene, member 11 (<jats:italic>TTLL11<\/jats:italic>) within that locus, as the IS causative gene in this British family. Two other <jats:italic>TTLL11<\/jats:italic> mutations were also identified in two additional AIS cases in the same cohort. Analyses of primary cells of individuals carrying the c.1569_1570insTT (NM_194252) mutation reveal a defect at the primary cilia level, which is less present, smaller and less polyglutamylated compared to control. Further, in a zebrafish, the knock down of <jats:italic>ttll11<\/jats:italic>, and the mutated <jats:italic>ttll11<\/jats:italic> confirmed its role in spine development and ciliary function in the fish retina. These findings provide evidence that mutations in <jats:italic>TTLL11<\/jats:italic>, a ciliary gene, contribute to the pathogenesis of IS.<\/jats:p>","DOI":"10.1038\/s41598-021-90155-0","type":"journal-article","created":{"date-parts":[[2021,5,26]],"date-time":"2021-05-26T10:04:00Z","timestamp":1622023440000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":30,"title":["Genetic variant of TTLL11 gene and subsequent ciliary defects are associated with idiopathic scoliosis in a 5-generation UK family"],"prefix":"10.1038","volume":"11","author":[{"given":"H\u00e9l\u00e8ne","family":"Mathieu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shunmoogum A.","family":"Patten","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jose Antonio","family":"Aragon-Martin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louise","family":"Ocaka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Simpson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Child","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florina","family":"Moldovan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,5,26]]},"reference":[{"key":"90155_CR1","doi-asserted-by":"publisher","first-page":"1124","DOI":"10.1172\/JCI77262","volume":"125","author":"SA Patten","year":"2015","unstructured":"Patten, S. 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