{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,14]],"date-time":"2026-02-14T00:25:52Z","timestamp":1771028752037,"version":"3.50.1"},"reference-count":79,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2023,1,27]],"date-time":"2023-01-27T00:00:00Z","timestamp":1674777600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"EEA Grant 2014\u20132021","award":["6\/2019"],"award-info":[{"award-number":["6\/2019"]}]},{"name":"EEA Grant 2014\u20132021","award":["87\/2019"],"award-info":[{"award-number":["87\/2019"]}]},{"name":"EEA Grant 2014\u20132021","award":["88\/2019"],"award-info":[{"award-number":["88\/2019"]}]},{"name":"EEA Grant 2014\u20132021","award":["19.29.01.03"],"award-info":[{"award-number":["19.29.01.03"]}]},{"name":"Romanian National Authority for Scientific Research and Innovation CCCDI\u2013UEFISCDI","award":["6\/2019"],"award-info":[{"award-number":["6\/2019"]}]},{"name":"Romanian National Authority for Scientific Research and Innovation CCCDI\u2013UEFISCDI","award":["87\/2019"],"award-info":[{"award-number":["87\/2019"]}]},{"name":"Romanian National Authority for Scientific Research and Innovation CCCDI\u2013UEFISCDI","award":["88\/2019"],"award-info":[{"award-number":["88\/2019"]}]},{"name":"Romanian National Authority for Scientific Research and Innovation CCCDI\u2013UEFISCDI","award":["19.29.01.03"],"award-info":[{"award-number":["19.29.01.03"]}]},{"name":"Ministry of Research and Innovation in Romania","award":["6\/2019"],"award-info":[{"award-number":["6\/2019"]}]},{"name":"Ministry of Research and Innovation in Romania","award":["87\/2019"],"award-info":[{"award-number":["87\/2019"]}]},{"name":"Ministry of Research and Innovation in Romania","award":["88\/2019"],"award-info":[{"award-number":["88\/2019"]}]},{"name":"Ministry of Research and Innovation in Romania","award":["19.29.01.03"],"award-info":[{"award-number":["19.29.01.03"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Orofaciodigital syndrome I (OFD1\u2013MIM #311200) is a rare ciliopathy characterized by facial dysmorphism, oral cavity, digit, and brain malformations, and cognitive deficits. OFD1 syndrome is an X-linked dominant disorder reported mostly in females. The gene responsible for this condition, OFD1 centriole and centriolar satellite protein (OFD1), is involved in primary cilia formation and several cilia-independent biological processes. The functional and structural integrity of the cilia impacts critical brain development processes, explaining the broad range of neurodevelopmental anomalies in ciliopathy patients. As several psychiatric conditions, such as autism spectrum disorders (ASD) and schizophrenia, are neurodevelopmental in nature, their connections with cilia roles are worth exploring. Moreover, several cilia genes have been associated with behavioral disorders, such as autism. We report on a three-year-old girl with a complex phenotype that includes oral malformations, severe speech delay, dysmorphic features, developmental delay, autism, and bilateral periventricular nodular heterotopia, presenting a de novo pathogenic variant in the OFD1 gene. Furthermore, to the best of our knowledge, this is the first report of autistic behavior in a female patient with OFD1 syndrome. We propose that autistic behavior should be considered a potential feature of this syndrome and that active screening for early signs of autism might prove beneficial for OFD1 syndrome patients.<\/jats:p>","DOI":"10.3390\/genes14020327","type":"journal-article","created":{"date-parts":[[2023,1,30]],"date-time":"2023-01-30T06:06:13Z","timestamp":1675058773000},"page":"327","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Autistic Behavior as Novel Clinical Finding in OFD1 Syndrome"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1352-3535","authenticated-orcid":false,"given":"Sorina Mihaela","family":"Papuc","sequence":"first","affiliation":[{"name":"Medical Genetics Laboratory, Victor Babes National Institute of Pathology, 050096 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alina","family":"Erbescu","sequence":"additional","affiliation":[{"name":"Medical Genetics Laboratory, Victor Babes National Institute of Pathology, 050096 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adelina","family":"Glangher","sequence":"additional","affiliation":[{"name":"Psychiatry Research Laboratory, Prof. Dr. Alex. Obregia Clinical Hospital of Psychiatry, 041914 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ioana","family":"Streata","sequence":"additional","affiliation":[{"name":"Regional Centre of Medical Genetics Dolj, Emergency County Hospital Craiova, 200642 Craiova, Romania"},{"name":"Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anca-Lelia","family":"Riza","sequence":"additional","affiliation":[{"name":"Regional Centre of Medical Genetics Dolj, Emergency County Hospital Craiova, 200642 Craiova, Romania"},{"name":"Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Magdalena","family":"Budisteanu","sequence":"additional","affiliation":[{"name":"Medical Genetics Laboratory, Victor Babes National Institute of Pathology, 050096 Bucharest, Romania"},{"name":"Psychiatry Research Laboratory, Prof. Dr. Alex. Obregia Clinical Hospital of Psychiatry, 041914 Bucharest, Romania"},{"name":"Department of Genetics, Faculty of Medicine, Titu Maiorescu University, 031593 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9315-5604","authenticated-orcid":false,"given":"Aurora","family":"Arghir","sequence":"additional","affiliation":[{"name":"Medical Genetics Laboratory, Victor Babes National Institute of Pathology, 050096 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,1,27]]},"reference":[{"key":"ref_1","unstructured":"(2022, November 04). Online Mendelian Inherintance in Man. Available online: https:\/\/omim.org\/."},{"key":"ref_2","first-page":"209","article-title":"Une malformation hereditaire de la muqueuse buccale: Brides et freins anormaux","volume":"55","author":"Psaume","year":"1954","journal-title":"Rev. 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