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This study aimed to underpin the genetic cause of skeletal dysplasia in three unrelated families with variable skeletal manifestations. The six affected individuals from three families had severe short stature with extreme shortening of forelimbs, short long-bones, and metatarsals, and brachydactyly (family 1); mild short stature, platyspondyly, and metaphyseal irregularities (family 2); or a prenatally lethal skeletal dysplasia with kidney features suggestive of a ciliopathy (family 3). Genetic studies by whole genome, whole exome, and ciliome panel sequencing identified in all affected individuals biallelic missense variants in KIF24, which encodes a kinesin family member controlling ciliogenesis. In families 1 and 3, with the more severe phenotype, the affected subjects harbored homozygous variants (c.1457A&amp;gt;G; p.(Ile486Val) and c.1565A&amp;gt;G; p.(Asn522Ser), respectively) in the motor domain which plays a crucial role in KIF24 function. In family 2, compound heterozygous variants (c.1697C&amp;gt;T; p.(Ser566Phe)\/c.1811C&amp;gt;T; p.(Thr604Met)) were found C-terminal to the motor domain, in agreement with a genotype\u2013phenotype correlation. In vitro experiments performed on amnioblasts of one affected fetus from family 3 showed that primary cilia assembly was severely impaired, and that cytokinesis was also affected. In conclusion, our study describes novel forms of skeletal dysplasia associated with biallelic variants in KIF24. To our knowledge this is the first report implicating KIF24 variants as the cause of a skeletal dysplasia, thereby extending the genetic heterogeneity and the phenotypic spectrum of rare bone disorders and underscoring the wide range of monogenetic skeletal ciliopathies. \u00a9 2022 The Authors. Journal of Bone and Mineral Research published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research (ASBMR).<\/jats:p>","DOI":"10.1002\/jbmr.4639","type":"journal-article","created":{"date-parts":[[2022,6,24]],"date-time":"2022-06-24T08:18:30Z","timestamp":1656058710000},"page":"1642-1652","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia"],"prefix":"10.1093","volume":"37","author":[{"given":"Madeline Louise","family":"Reilly","sequence":"first","affiliation":[{"name":"Madeline Louise Reilly, Department of Neuroscience, School of Life Sciences University of Sussex UK"},{"name":"Imagine Institute, Laboratory of Inherited Kidney Diseases, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale (INSERM) Unit\u00e9s Mixtes de Recherche (UMR) 1163 Universit\u00e9 Paris Cit\u00e9 Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3097-2997","authenticated-orcid":false,"given":"Noor ul","family":"Ain","sequence":"additional","affiliation":[{"name":"Noor ul Ain Institute of Biomedical and Genetic Engineering Islamabad Pakistan"},{"name":"Department of Molecular Medicine and Surgery and Center for Molecular Medicine Karolinska Institutet Stockholm Sweden"},{"name":"School of Biological Sciences University of the Punjab Lahore Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mari","family":"Muurinen","sequence":"additional","affiliation":[{"name":"Research Program for Clinical and Molecular Metabolism University of Helsinki Helsinki Finland"},{"name":"Children's Hospital University of Helsinki and Helsinki University Hospital Helsinki Finland"},{"name":"Folkh\u00e4lsan Research Center Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9009-3698","authenticated-orcid":false,"given":"Alice","family":"Tata","sequence":"additional","affiliation":[{"name":"Imagine Institute, Laboratory of Inherited Kidney Diseases, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale (INSERM) Unit\u00e9s Mixtes de Recherche (UMR) 1163 Universit\u00e9 Paris Cit\u00e9 Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9line","family":"Huber","sequence":"additional","affiliation":[{"name":"Department of Genetics, Reference Centre for Skeletal Dysplasia, Assistance Publique\u2013H\u00f4pitaux de Paris Necker-Enfants Malades Hospital Paris France"},{"name":"Imagine Institute, Laboratory of Molecular and Physiopathological bases of Osteochondrodysplasia, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale (INSERM) Unit\u00e9s Mixtes de Recherche (UMR) 1163 Universit\u00e9 Paris Cit\u00e9 Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marleen","family":"Simon","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University Medical Centre Utrecht Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tayyaba","family":"Ishaq","sequence":"additional","affiliation":[{"name":"School of Biological Sciences University of the Punjab Lahore Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nick","family":"Shaw","sequence":"additional","affiliation":[{"name":"Institute of Metabolism and Systems Research University of Birmingham Birmingham UK"},{"name":"Department of Endocrinology & Diabetes Birmingham Children's Hospital Birmingham UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salla","family":"Rusanen","sequence":"additional","affiliation":[{"name":"Folkh\u00e4lsan Research Center Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minna","family":"Pekkinen","sequence":"additional","affiliation":[{"name":"Research Program for Clinical and Molecular Metabolism University of Helsinki Helsinki Finland"},{"name":"Children's Hospital University of Helsinki and Helsinki University Hospital Helsinki Finland"},{"name":"Folkh\u00e4lsan Research Center Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4328-6304","authenticated-orcid":false,"given":"Wolfgang","family":"H\u00f6gler","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine Johannes Kepler University Linz Linz Austria"},{"name":"Institute of Metabolism and Systems Research University of Birmingham Birmingham UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maarten F. C. M.","family":"Knapen","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Fetal Medicine Erasmus Medical Center Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Myrthe","family":"van den Born","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Saunier","sequence":"additional","affiliation":[{"name":"Imagine Institute, Laboratory of Inherited Kidney Diseases, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale (INSERM) Unit\u00e9s Mixtes de Recherche (UMR) 1163 Universit\u00e9 Paris Cit\u00e9 Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sadaf","family":"Naz","sequence":"additional","affiliation":[{"name":"School of Biological Sciences University of the Punjab Lahore 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