{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T05:10:28Z","timestamp":1790745028102,"version":"4.1.0"},"reference-count":47,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2023,11,17]],"date-time":"2023-11-17T00:00:00Z","timestamp":1700179200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Investissements d\u2019avenir","award":["ANR-10-IAIHU-06"],"award-info":[{"award-number":["ANR-10-IAIHU-06"]}]},{"name":"SFCR (Soci\u00e9t\u00e9 fran\u00e7aise de chirurgie rachidienne)","award":["ANR-10-IAIHU-06"],"award-info":[{"award-number":["ANR-10-IAIHU-06"]}]},{"name":"Cotrel foundation","award":["ANR-10-IAIHU-06"],"award-info":[{"award-number":["ANR-10-IAIHU-06"]}]},{"name":"Ramsay G\u00e9nerale de Sant\u00e9","award":["ANR-10-IAIHU-06"],"award-info":[{"award-number":["ANR-10-IAIHU-06"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>A significant genetic involvement has been known for decades to exist in adolescent idiopathic scoliosis (AIS), a spine deformity affecting 1\u20133% of the world population. However, though biomechanical and endocrinological theories have emerged, no clear pathophysiological explanation has been found. Data from the whole-exome sequencing performed on 113 individuals in 19 multi-generational families with AIS have been filtered and analyzed via interaction pathways and functional category analysis (Varaft, Bingo and Panther). The subsequent list of 2566 variants has been compared to the variants already described in the literature, with an 18% match rate. The familial analysis in two families reveals mutations in the BICD2 gene, supporting the involvement of the muscular system in AIS etiology. The cellular component analysis revealed significant enrichment in myosin-related and neuronal activity-related categories. All together, these results reinforce the suspected role of the neuronal and muscular systems, highlighting the calmodulin pathway and suggesting a role of DNA-binding activities in AIS physiopathology.<\/jats:p>","DOI":"10.3390\/genes14112094","type":"journal-article","created":{"date-parts":[[2023,11,17]],"date-time":"2023-11-17T09:10:38Z","timestamp":1700212238000},"page":"2094","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["The Whole-Exome Sequencing of a Cohort of 19 Families with Adolescent Idiopathic Scoliosis (AIS): Candidate Pathways"],"prefix":"10.3390","volume":"14","author":[{"given":"Laura","family":"Marie-Hardy","sequence":"first","affiliation":[{"name":"Brain Institute of Paris, 43-87 bd de l\u2019H\u00f4pital, 75013 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Courtin","sequence":"additional","affiliation":[{"name":"Brain Institute of Paris, 43-87 bd de l\u2019H\u00f4pital, 75013 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hugues","family":"Pascal-Moussellard","sequence":"additional","affiliation":[{"name":"Brain Institute of Paris, 43-87 bd de l\u2019H\u00f4pital, 75013 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serge","family":"Zakine","sequence":"additional","affiliation":[{"name":"Clinique Maussins Nollet, Ramsay G\u00e9nerale de Sant\u00e9, 67 Rue de Romainville, 75019 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexis","family":"Brice","sequence":"additional","affiliation":[{"name":"Brain Institute of Paris, 43-87 bd de l\u2019H\u00f4pital, 75013 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,11,17]]},"reference":[{"key":"ref_1","first-page":"193","article-title":"Adolescent Idiopathic Scoliosis: Diagnosis and Management","volume":"89","author":"Horne","year":"2014","journal-title":"Am. 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