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At least 18 subtypes of the condition have been described in the literature. OFD is caused by variants in several genes with overlapping phenotypes. We studied a consanguineous Pakistani family with two affected siblings with an atypical form of OFD type 4 (OFD4). In addition to the typical features of OFD4 that include limb defects and growth retardation, the siblings displayed rare features of scaphocephaly and seizures. Exome sequencing analysis revealed a novel homozygous splice site variant c.257\u20101G&gt;A in<jats:italic>TCTN3<\/jats:italic>that segregated with disease. This homozygous splice site variant in<jats:italic>TCTN3<\/jats:italic>is most likely the underlying cause of the atypical form of OFD4 observed in this family. Our results contribute to the phenotypic spectrum of<jats:italic>TCTN3<\/jats:italic>associated ciliopathies and will facilitate better clinical diagnosis.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ahg.12462","type":"journal-article","created":{"date-parts":[[2022,8,30]],"date-time":"2022-08-30T11:34:24Z","timestamp":1661859264000},"page":"291-296","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["A splice site variant in<i>TCTN3<\/i>underlies an atypical form of orofaciodigital syndrome IV"],"prefix":"10.1111","volume":"86","author":[{"given":"Shabir","family":"Hussain","sequence":"first","affiliation":[{"name":"Department of Biochemistry, Faculty of Biological Sciences Quaid\u2010i\u2010Azam University Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shoaib","family":"Nawaz","sequence":"additional","affiliation":[{"name":"Department of Biotechnology, Faculty of Biological Sciences Quaid\u2010i\u2010Azam University Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hammal","family":"Khan","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Faculty of Biological Sciences Quaid\u2010i\u2010Azam University Islamabad Pakistan"},{"name":"Department of Biosciences COMSATS University Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anushree","family":"Acharya","sequence":"additional","affiliation":[{"name":"Center for Statistical Genetics, Gertrude H. 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