{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T17:11:02Z","timestamp":1791220262268,"version":"4.1.0"},"reference-count":14,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2007,6,10]],"date-time":"2007-06-10T00:00:00Z","timestamp":1181433600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2007,7]]},"abstract":"<jats:p>Recently, two truncating mutations in the <jats:italic>PHF8 <\/jats:italic>(plant homeodomain finger protein 8) gene have been found to cause X\u2010linked mental retardation associated with cleft lip\/cleft palate (CL\/P). One of the truncating mutations was found in the original family with Siderius\u2013Hamel CL\/P syndrome where only two of the three affected individuals had mental retardation (MR) with CL\/P and one individual had mild MR. The second mutation was present in a family with four affected men, three of whom had MR and CL\/P, while the fourth individual had mild MR without clefting. Here, we report a novel nonsense mutation (p.K177X) in a male patient who has MR associated with CL\/P. The mutation results in a truncated PHF8 protein lacking the Jumonji\u2010like C terminus domain and five nuclear localization signals. Our finding further supports the hypothesis that the PHF8 protein may play an important role in cognitive function and midline formation.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2007.00817.x","type":"journal-article","created":{"date-parts":[[2007,6,11]],"date-time":"2007-06-11T04:17:16Z","timestamp":1181535436000},"page":"19-22","source":"Crossref","is-referenced-by-count":96,"title":["A novel mutation in the <i>PHF8 <\/i>gene is associated with X\u2010linked mental retardation with cleft lip\/cleft palate"],"prefix":"10.1111","volume":"72","author":[{"given":"FE","family":"Abidi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"MG","family":"Miano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"JC","family":"Murray","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"CE","family":"Schwartz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,6,26]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1159\/000071603"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrg1501"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1097\/01.mop.0000184290.57525.fb"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/31940"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/8719"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/80002"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.9.941"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.8.981"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10446"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1264"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1086\/382137"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.029439"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10144"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1999.5924"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1399-0004.2007.00817.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1399-0004.2007.00817.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,9]],"date-time":"2023-10-09T18:13:16Z","timestamp":1696875196000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1399-0004.2007.00817.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,6,26]]},"references-count":14,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2007,7]]}},"alternative-id":["10.1111\/j.1399-0004.2007.00817.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1399-0004.2007.00817.x","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,6,26]]}}}