{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["14(2)"],"submitter":["Papuc SM"],"pubmed_abstract":["Orofaciodigital syndrome I (OFD1-MIM #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 (<i>OFD1</i>), 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 ex"],"journal":["Genes"],"pagination":["327"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9957277"],"repository":["biostudies-literature"],"pubmed_title":["Autistic Behavior as Novel Clinical Finding in OFD1 Syndrome."],"pmcid":["PMC9957277"],"pubmed_authors":["Erbescu A","Riza AL","Streata I","Glangher A","Papuc SM","Budisteanu M","Arghir A"],"additional_accession":[]},"is_claimable":false,"name":"Autistic Behavior as Novel Clinical Finding in OFD1 Syndrome.","description":"Orofaciodigital syndrome I (OFD1-MIM #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 (<i>OFD1</i>), 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 ex","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Jan","modification":"2025-04-25T17:08:43.213Z","creation":"2024-10-16T10:29:34.285Z"},"accession":"S-EPMC9957277","cross_references":{"pubmed":["36833254"],"doi":["10.3390/genes14020327"]}}