{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T23:59:05Z","timestamp":1773014345586,"version":"3.50.1"},"reference-count":7,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2025,5,26]],"date-time":"2025-05-26T00:00:00Z","timestamp":1748217600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2025,5,26]],"date-time":"2025-05-26T00:00:00Z","timestamp":1748217600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Developmental Neurobiology"],"published-print":{"date-parts":[[2025,7]]},"abstract":"ABSTRACT<\/jats:title>\n \n \n \n Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL, OMIM no #617755) is an ultra\u2010rare syndrome associated with heterozygous pathogenic variants in the\n BPTF<\/jats:italic>\n gene. Haploinsufficiency of the\n BPTF<\/jats:italic>\n gene, a chromatin remodeling gene that is related to epigenetic modification, is the cause of this disease.\n <\/jats:p>\n \n BPTF<\/jats:italic>\n gene variants were detected using whole\u2010exome sequencing. Family segregation analysis was performed using sanger sequencing.\n <\/jats:p>\n \n This study reported three variants, c.2812+1G>C, c.6022G>A, and c.6416G>A in the\n BPTF<\/jats:italic>\n gene. The variations of the c.6022G>A and c.2812+1G>C have not been previously reported in variant types observed at the\n BPTF<\/jats:italic>\n gene in sources including Genome Aggregation Database (gnomAD), Leiden Open Variation Database (LOVD), Human Gene Mutation Database (HGMD), and ClinVar.\n <\/jats:p>\n \n We detected two novel missense variants in patients presenting all phenotypic characteristics of the\n BPTF<\/jats:italic>\n \u2010related NEDDFL syndrome severely, including severe ID, distinctive facial features, and anomalies of the hands and feet. Additionally, all four of our cases in this study had distal limb abnormalities such as syndactyly and clinodactyly that accompany severe intellectual disability. We suggest that distal limb abnormalities associated with the\n BPTF<\/jats:italic>\n gene may accompany a more severe diagnosis of intellectual disability. Also, growth retardation may be more severe, especially for the cases with splicing variants of the\n BPTF<\/jats:italic>\n gene variants.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/dneu.22970","type":"journal-article","created":{"date-parts":[[2025,5,26]],"date-time":"2025-05-26T04:35:15Z","timestamp":1748234115000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Effects of the Missense Variants on Complete Phenotype and Splicing Variant on Severe Growth Retardation in the\n BPTF<\/i>\n Gene"],"prefix":"10.1002","volume":"85","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 Bal\u0131kesir University Faculty of Medicine Bal\u0131kesir Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hamide Betul","family":"Gerik\u2010Celebi","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Bal\u0131kesir Ataturk City Hospital Bal\u0131kesir Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bet\u00fcl Diler","family":"Durgut","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Child Neurology University of Giresun Giresun Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ayberk","family":"T\u00fcrky\u0131lmaz","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Karadeniz Technical University Faculty of Medicine Trabzon Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hilmi","family":"Bolat","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Bal\u0131kesir University Faculty of Medicine Bal\u0131kesir Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,5,26]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1101\/cshperspect.a036533"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62102"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bioorg.2023.106453"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.08.014"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.2066"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cbpa.2021.02.003"}],"container-title":["Developmental Neurobiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/dneu.22970","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/dneu.22970","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/dneu.22970","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T22:46:47Z","timestamp":1773010007000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/dneu.22970"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,5,26]]},"references-count":7,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2025,7]]}},"alternative-id":["10.1002\/dneu.22970"],"URL":"https:\/\/doi.org\/10.1002\/dneu.22970","archive":["Portico"],"relation":{},"ISSN":["1932-8451","1932-846X"],"issn-type":[{"value":"1932-8451","type":"print"},{"value":"1932-846X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,5,26]]},"assertion":[{"value":"2025-01-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-04-16","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-05-26","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e22970"}}