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Overlapping features and molecular heterogeneity of ciliopathies make diagnoses distinctly challenging. In this group of diseases, tectonic genes, and their mutations play an important role. We present a first\u2010trimester fetus with occipital encephalocele and OFD type IV caused by<jats:italic>TCTN3<\/jats:italic>compound heterozygous pathogenic variants: c.1423_1429del (p.Arg475Serfs*10) and c.3G&gt;A (initiator codon). A severe arm anomaly was described in our case, with two fingers along the atrophic forearm and polydactyly on other limbs. This could be a new phenotypic characteristic contributing to further understanding of<jats:italic>TCTN3<\/jats:italic>\u2010related disorders as well as other tectonic proteins in ciliopathy spectrum diseases.<\/jats:p>","DOI":"10.1002\/ajmg.a.62684","type":"journal-article","created":{"date-parts":[[2022,2,16]],"date-time":"2022-02-16T08:03:41Z","timestamp":1644998621000},"page":"1826-1830","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Prenatally detected encephalocele associated with a novel pathogenic<scp><i>TCTN3<\/i><\/scp>variant: A case report and literature review"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1513-2965","authenticated-orcid":false,"given":"Sanda","family":"Huljev Frkovi\u0107","sequence":"first","affiliation":[{"name":"Department of Paediatrics, Division for genetics and metabolism, University of Zagreb School of Medicine University Hospital Centre Zagreb Zagreb Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3962-0269","authenticated-orcid":false,"given":"Ana","family":"Vi\u010di\u0107","sequence":"additional","affiliation":[{"name":"Cytogenetic Laboratory, Department of Obstetrics and Gynecology Clinical Hospital \u201cSveti Duh\u201d Zagreb Croatia"},{"name":"University of Applied Health Sciences Zagreb Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristina","family":"Crkvenac Gornik","sequence":"additional","affiliation":[{"name":"Department of Laboratory Diagnostics, Division of Cytogenetics University Hospital Centre Zagreb Zagreb Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dinko","family":"Kuli\u0161i\u0107","sequence":"additional","affiliation":[{"name":"Department of Gynecology and Obstetrics General Hospital Zadar Zadar Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Feodora","family":"Stipoljev","sequence":"additional","affiliation":[{"name":"Cytogenetic Laboratory, Department of Obstetrics and Gynecology Clinical Hospital \u201cSveti Duh\u201d Zagreb Croatia"},{"name":"Faculty of Medicine Josip Juraj Strossmayer University of Osijek Osijek Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,2,15]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bty453"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2015-103087"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2020.01.012"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1101\/cshperspect.a028134"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1159\/000494017"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.160"},{"key":"e_1_2_9_8_1","first-page":"342","article-title":"A novel start codon mutation of the MERTK gene in a patient with retinitis pigmentosa","volume":"22","author":"Jinda W.","year":"2016","journal-title":"Molecular Vision"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmu.2012.07.005"},{"key":"e_1_2_9_10_1","doi-asserted-by":"crossref","first-page":"S1","DOI":"10.1016\/S0049-3848(14)50062-X","article-title":"Clinical and biochemical consequences of Met1Ileu mutation in Serpinc1 gene: Generation of a small non\u2010inhibitory Antithrombin variant without the N\u2010terminal region by use of an alternative initiation codon that has a strong gain\u2010of\u2010function associated with","volume":"133","author":"Navarro\u2010Fern\u00e1ndez J.","year":"2014","journal-title":"Thrombosis Research"},{"key":"e_1_2_9_11_1","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1016\/S1016-8478(23)07370-3","article-title":"Identification of novel regulators of apoptosis using a high\u2010throughput cell\u2010based screen","volume":"23","author":"Park K. 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