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Disease-causing variants in the genes encoding the CPLANE complex result in a wide variety of skeletal dysplasia with disturbed ciliary functions. The phenotypic spectrum includes orofaciodigital syndrome and short rib polydactyly syndrome. FUZ, as a part of the CPLANE complex, is involved in intraflagellar vesicular trafficking within primary cilia. Previously, the variants, c.98_111+9del and c.851G&gt;T in <jats:italic>FUZ<\/jats:italic> were identified in two individuals with a skeletal ciliopathy, manifesting digital anomalies (polydactyly, syndactyly), orofacial cleft, short ribs and cardiac defects. Here, we present two novel variants, c.601G&gt;A and c.625_636del in biallelic state, in two additional subjects exhibiting phenotypic overlap with the previously reported cases. Our findings underscore the association between biallelic loss of function variants in <jats:italic>FUZ<\/jats:italic> and skeletal ciliopathy akin to orofaciodigital syndrome.<\/jats:p>","DOI":"10.1038\/s41431-024-01619-6","type":"journal-article","created":{"date-parts":[[2024,5,3]],"date-time":"2024-05-03T14:02:23Z","timestamp":1714744943000},"page":"1022-1026","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome"],"prefix":"10.1038","volume":"32","author":[{"given":"Swati","family":"Singh","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9575-0722","authenticated-orcid":false,"given":"Sheela","family":"Nampoothiri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dhanya Lakshmi","family":"Narayanan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chakshu","family":"Chaudhry","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandesh","family":"Salvankar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0139-8239","authenticated-orcid":false,"given":"Katta M.","family":"Girisha","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,5,3]]},"reference":[{"key":"1619_CR1","doi-asserted-by":"publisher","first-page":"1164","DOI":"10.1002\/ajmg.a.63132","volume":"191","author":"S Unger","year":"2023","unstructured":"Unger S, Ferreira CR, Mortier GR, Ali H, Bertola DR, Calder A, et al. 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KMG holds shares and is a director of Suma Genomics Private Limited that has interests in clinical diagnostics.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"Consents for genetic testing on clinical basis were obtained from both families. Informed research consent was obtained for the second family, as approved by the Institutional Ethics Committee, Kasturba Medical College and Hospital, Manipal (IEC: 363\/2020).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}}]}}