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The genetic etiology of most VMs remains unknown and their identification may facilitate the development of novel therapeutic and prevention strategies. Exome sequencing was performed on both the discovery cohort of nine unrelated probands from the USA with VMs and the replication cohort from China (Deciphering Disorders Involving Scoliosis &amp; COmorbidities study). The discovery cohort was analyzed using the PhenoDB analysis tool. Heterozygous and homozygous, rare and functional variants were selected and evaluated for their ClinVar, HGMD, OMIM, GWAS, mouse model phenotypes, and other annotations to identify the best candidates. Genes with candidate variants in three or more probands were selected. The replication cohort was analyzed by another in\u2010house developed pipeline. We identified rare heterozygous variants in <jats:italic>KIAA1217<\/jats:italic> in four out of nine probands in the discovery cohort and in five out of 35 probands in the replication cohort. Collectively, we identified 11 <jats:italic>KIAA1217<\/jats:italic> rare variants in 10 probands, three of which have not been described in gnomAD and one of which is a nonsense variant. We propose that genetic variations of <jats:italic>KIAA1217<\/jats:italic> may contribute to the etiology of VMs.<\/jats:p>","DOI":"10.1002\/ajmg.a.61607","type":"journal-article","created":{"date-parts":[[2020,5,5]],"date-time":"2020-05-05T12:40:34Z","timestamp":1588682434000},"page":"1664-1672","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["<scp><i>KIAA1217<\/i><\/scp>: A novel candidate gene associated with isolated and syndromic vertebral malformations"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1384-2915","authenticated-orcid":false,"given":"Noura","family":"Al Dhaheri","sequence":"first","affiliation":[{"name":"McKusick\u2010Nathans Department of Genetic Medicine Johns Hopkins University School of Medicine  Baltimore Maryland USA"},{"name":"Department of Pediatrics, College of Medicine and Health Sciences UAE University  Al\u2010Ain 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