{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T15:19:11Z","timestamp":1747149551036,"version":"3.40.5"},"reference-count":17,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2024,8,21]],"date-time":"2024-08-21T00:00:00Z","timestamp":1724198400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Intl J of Devlp Neuroscience"],"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The <jats:italic>SETD1B<\/jats:italic> gene, located on chromosome 12q24, is one of the chromatin\u2010modifying genes involved in epigenetic regulation of gene transcription. The phenotype of pathogenic variants in the <jats:italic>SETD1B<\/jats:italic> gene includes intellectual disability, seizures, and language delay (IDDSELD, OMIM 619000). In this study, we present a family consisting of consanguineous parents who died of cancer and their offspring. This family includes two cases diagnosed with autism spectrum disorder (ASD); six cases diagnosed with schizophrenia, bipolar disorder, or schizoaffective disorder; there cases diagnosed with cancer; and five cases who died of unknown causes in early childhood. Three affected members of this family agreed to genetic testing. We used whole exome sequencing. We report a novel in\u2010frame deletion variant of the <jats:italic>SETD1B<\/jats:italic> gene in a family with cases diagnosed with schizoaffective disorder and ASD without seizures and intellectual disability. It was found that the phenotypic features were inherited for at least three generations in the family we presented, and it was shown that the pathogenic variant of the <jats:italic>SETD1B<\/jats:italic> gene was transmitted from the affected parent to his affected children. In addition, the father was diagnosed with both schizoaffective disorder and leukemia. We proposed an association between rare variants of <jats:italic>SETD1B<\/jats:italic> and phenotypes of ASD and schizoaffective disorder without seizures and intellectual disability. The <jats:italic>SETD1B<\/jats:italic> gene is included in both the ASD genetic database of SFARI (<jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"https:\/\/gene.sfari.org\/\">https:\/\/gene.sfari.org\/<\/jats:ext-link>) and the cancer database of COSMIC (<jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"https:\/\/cancer.sanger.ac.uk\/cosmic\">https:\/\/cancer.sanger.ac.uk\/cosmic<\/jats:ext-link>). However, there are very few reports of <jats:italic>SETD1B<\/jats:italic> gene variants as clinical entities. To our knowledge, the <jats:italic>SETD1B<\/jats:italic> gene variant has not been previously reported in an individual diagnosed with both a neuropsychiatric disorder and cancer.<\/jats:p>","DOI":"10.1002\/jdn.10369","type":"journal-article","created":{"date-parts":[[2024,8,22]],"date-time":"2024-08-22T04:07:25Z","timestamp":1724299645000},"page":"720-726","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Phenotypes of autism spectrum disorder and schizoaffective disorder associated with <i>SETD1B<\/i> gene but without intellectual disability and seizures"],"prefix":"10.1002","volume":"84","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4574-421X","authenticated-orcid":false,"given":"G\u00fcl","family":"\u00dcnsel\u2010Bolat","sequence":"first","affiliation":[{"name":"Department of Child and Adolescent Psychiatry, Faculty of Medicine Bal\u0131kesir University  Turkey"},{"name":"Department of Neuroscience Ege University  \u0130zmir Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hilmi","family":"Bolat","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine Bal\u0131kesir University  Turkey"},{"name":"Department of Medical Bioinformatics Ege University  \u0130zmir Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,8,21]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.humpath.2014.04.013"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-019-0617-1"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.30573"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/epi4.12339"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-017-1863-y"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13148-019-0749-3"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41380-020-0725-5"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M609809200"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2019-106756"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.27157"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/nn.4267"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature13176"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.23659"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep18209"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-021-01246-2"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1097\/MOH.0000000000000346"}],"container-title":["International Journal of Developmental Neuroscience"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jdn.10369","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,8]],"date-time":"2024-11-08T07:17:09Z","timestamp":1731050229000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jdn.10369"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,8,21]]},"references-count":17,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2024,11]]}},"alternative-id":["10.1002\/jdn.10369"],"URL":"https:\/\/doi.org\/10.1002\/jdn.10369","archive":["Portico"],"relation":{},"ISSN":["0736-5748","1873-474X"],"issn-type":[{"type":"print","value":"0736-5748"},{"type":"electronic","value":"1873-474X"}],"subject":[],"published":{"date-parts":[[2024,8,21]]},"assertion":[{"value":"2024-01-15","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-08-12","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-08-21","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}