{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,11]],"date-time":"2026-10-11T02:49:53Z","timestamp":1791686993434,"version":"4.3.4"},"reference-count":20,"publisher":"BMJ","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2005,10]]},"abstract":"<jats:p>Truncating mutations were found in the <jats:italic>PHF8<\/jats:italic> gene (encoding the PHD finger protein 8) in two unrelated families with X linked mental retardation (XLMR) associated with cleft lip\/palate (MIM 300263). Expression studies showed that this gene is ubiquitously transcribed, with strong expression of the mouse orthologue <jats:italic>Phf8<\/jats:italic> in embryonic and adult brain structures. The coded <jats:italic>PHF8<\/jats:italic> protein harbours two functional domains, a PHD finger and a JmjC (Jumonji-like C terminus) domain, implicating it in transcriptional regulation and chromatin remodelling. The association of XLMR and cleft lip\/palate in these patients with mutations in <jats:italic>PHF8<\/jats:italic> suggests an important function of <jats:italic>PHF8<\/jats:italic> in midline formation and in the development of cognitive abilities, and links this gene to XLMR associated with cleft lip\/palate. Further studies will explore the specific mechanisms whereby <jats:italic>PHF8<\/jats:italic> alterations lead to mental retardation and midline defects.<\/jats:p>","DOI":"10.1136\/jmg.2004.029439","type":"journal-article","created":{"date-parts":[[2005,9,30]],"date-time":"2005-09-30T15:12:40Z","timestamp":1128093160000},"page":"780-786","source":"Crossref","is-referenced-by-count":204,"title":["Mutations in <i>PHF8<\/i> are associated with X linked mental retardation and cleft lip\/cleft palate"],"prefix":"10.1136","volume":"42","author":[{"given":"F","family":"Laumonnier","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Holbert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N","family":"Ronce","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F","family":"Faravelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Lenzner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C E","family":"Schwartz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Lespinasse","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H","family":"Van Esch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Lacombe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Goizet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F","family":"Phan-Dinh Tuy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H","family":"van Bokhoven","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J-P","family":"Fryns","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Chelly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H-H","family":"Ropers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Moraine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B C J","family":"Hamel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Briault","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2005,9,30]]},"reference":[{"key":"2025100520450750000_42.10.780.1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320070407"},{"key":"2025100520450750000_42.10.780.2","doi-asserted-by":"publisher","DOI":"10.1159\/000071603"},{"key":"2025100520450750000_42.10.780.3","doi-asserted-by":"publisher","DOI":"10.1080\/10408360490443013"},{"key":"2025100520450750000_42.10.780.4","first-page":"669","volume":"2","year":"2001","journal-title":"Nat Rev Genet"},{"key":"2025100520450750000_42.10.780.5","doi-asserted-by":"publisher","DOI":"10.1038\/nrg1501"},{"key":"2025100520450750000_42.10.780.6","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.8.981"},{"key":"2025100520450750000_42.10.780.7","doi-asserted-by":"publisher","DOI":"10.1038\/ng862"},{"key":"2025100520450750000_42.10.780.8","doi-asserted-by":"publisher","DOI":"10.1038\/13810"},{"key":"2025100520450750000_42.10.780.9","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.9.941"},{"key":"2025100520450750000_42.10.780.10","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.10.705"},{"key":"2025100520450750000_42.10.780.11","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-9525(03)00113-6"},{"key":"2025100520450750000_42.10.780.12","doi-asserted-by":"publisher","DOI":"10.1086\/344661"},{"key":"2025100520450750000_42.10.780.13","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960712)64:1<169::AID-AJMG29>3.0.CO;2-K"},{"key":"2025100520450750000_42.10.780.14","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990730)85:3<216::AID-AJMG6>3.0.CO;2-X"},{"key":"2025100520450750000_42.10.780.15","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1002\/(SICI)1096-8628(19991222)87:5<446::AID-AJMG15>3.0.CO;2-F","volume":"87","year":"1999","journal-title":"Am J Med Genet"},{"key":"2025100520450750000_42.10.780.16","doi-asserted-by":"publisher","DOI":"10.1038\/31940"},{"key":"2025100520450750000_42.10.780.17","doi-asserted-by":"publisher","DOI":"10.1038\/ng1040"},{"key":"2025100520450750000_42.10.780.18","doi-asserted-by":"publisher","DOI":"10.1016\/S0968-0004(00)01700-X"},{"key":"2025100520450750000_42.10.780.19","doi-asserted-by":"publisher","DOI":"10.1086\/427563"},{"key":"2025100520450750000_42.10.780.20","doi-asserted-by":"crossref","first-page":"3065","DOI":"10.1242\/dev.124.16.3065","volume":"124","year":"1997","journal-title":"Development"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.2004.029439","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T03:45:13Z","timestamp":1759722313000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.2004.029439"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,9,30]]},"references-count":20,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2005,9,30]]},"published-print":{"date-parts":[[2005,10]]}},"alternative-id":["10.1136\/jmg.2004.029439"],"URL":"https:\/\/doi.org\/10.1136\/jmg.2004.029439","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,9,30]]}}}