{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,13]],"date-time":"2026-01-13T22:02:32Z","timestamp":1768341752254,"version":"3.49.0"},"reference-count":13,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2023,5,15]],"date-time":"2023-05-15T00:00:00Z","timestamp":1684108800000},"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":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP) (MIM#617333) is an autosomal dominant disorder characterized by delayed psychomotor development, intellectual disability (ID), and dysmorphic facial features due to pathogenic variations in the Bromodomain\u2010 and PHD Finger\u2010Containing Protein (<jats:italic>BRPF1<\/jats:italic>) (MIM#602410) gene. Herein, we report the first Turkish patients with IDDDFP. Additionally, the patients had hematopoietic disorders such as anemia and thrombocytopenia, which have not been previously described in IDDDFP patients. Genetic testing using Whole Exome Sequencing (WES) revealed a novel heterozygous c.1433G\u2009&gt;\u2009A; p.W478* (NM_004634.3) pathogenic variant on exon 3 of the <jats:italic>BRPF1<\/jats:italic> gene. The patients demonstrated classical features of IDDDFP such as intellectual disability, developmental delay, ptosis, micro and retrognathia, and dysmorphic facial features, in addition to the anemia and thrombocytopenia. Apart from the variant in <jats:italic>BRPF1<\/jats:italic>, no additional genomic changes were detected by WES and chromosomal microarray analysis (CMA). Hopefully, our novel report on the hematopoietic anomalies of our patients due to <jats:italic>BRPF1<\/jats:italic> will expand upon the clinical spectrum of IDDDFP, encourage further studies about <jats:italic>BRPF1<\/jats:italic>\u2010hematopoietic system relations, and affect the diagnostic and therapeutic schemes of hematopoietic system disorders.<\/jats:p>","DOI":"10.1002\/ajmg.a.63244","type":"journal-article","created":{"date-parts":[[2023,5,16]],"date-time":"2023-05-16T06:39:31Z","timestamp":1684219171000},"page":"2209-2214","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Anemia and thrombocytopenia due to a novel <scp><i>BRPF1<\/i><\/scp> variant in a family from \u00c7anakkale with intellectual disability and dysmorphic facies: Case report and review of the literature"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3789-2607","authenticated-orcid":false,"given":"Canan Ceylan","family":"Kose","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, \u00c7anakkale Onsekiz Mart University, Faculty of Medicine  \u00c7anakkale Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0948-7201","authenticated-orcid":false,"given":"Derya","family":"Kaya","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, \u00c7anakkale Onsekiz Mart University, Faculty of Medicine  \u00c7anakkale Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0160-0377","authenticated-orcid":false,"given":"Mehmet Berkay","family":"Akcan","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, \u00c7anakkale Onsekiz Mart University, Faculty of Medicine  \u00c7anakkale Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7191-2240","authenticated-orcid":false,"given":"Fatma","family":"Silan","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, \u00c7anakkale Onsekiz Mart University, Faculty of Medicine  \u00c7anakkale Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,5,15]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s43042-022-00356-z"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2019.103691"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2009.02.021"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2020.104002"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.11.010"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2020.00368"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.665"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62706"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.3389\/fncel.2019.00249"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.11.011"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1126\/sciadv.aax0021"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI80711"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M114.635250"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63244","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,23]],"date-time":"2023-08-23T12:23:31Z","timestamp":1692793411000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63244"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5,15]]},"references-count":13,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2023,8]]}},"alternative-id":["10.1002\/ajmg.a.63244"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63244","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,5,15]]},"assertion":[{"value":"2022-10-06","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-05-03","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-05-15","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}