{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T12:23:10Z","timestamp":1791894190451,"version":"4.3.4"},"reference-count":27,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2009,8,12]],"date-time":"2009-08-12T00:00:00Z","timestamp":1250035200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2009,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Heterozygous mutations in the <jats:italic>p63<\/jats:italic> gene underlie a group of at least seven allelic syndromes, including ankyloblepharon\u2010ectodermal defects\u2010cleft lip\/palate syndrome (AEC) and Rapp Hodgkin syndrome (RHS), which involves varying degrees of ectodermal dysplasia, orofacial clefting and limb malformations. Mutations in the AEC and Rapp Hodgkin syndromes cluster in the 3\u2032 end of the <jats:italic>p63<\/jats:italic> gene. Previously reported mutations are mainly missense and frameshift mutations in exons 13 and 14, affecting the p63\u03b1\u2010specific SAM (sterile alpha motif) and TI (transactivation inhibitory) domains. A patient cohort affected by AEC syndrome was evaluated during International Research Symposium supported by the National Foundation for Ectodermal Dysplasias. Nineteen patients underwent full clinical evaluations and 18 had findings consistent with a diagnosis of AEC syndrome. These 19 patients, along with 5 additional relatives had genomic DNA analysis. Twenty\u2010one of the 24 participants from 12 families were found to have mutations in the <jats:italic>p63<\/jats:italic> gene. Eleven different mutations were identified; 10 were novel mutations. Eight were missense mutations within the coding region of the SAM domain. Three other mutations were located in exon 14 sequences, which encode the TI domain. The effects of the mutations in the SAM and TI domains are poorly understood and functional studies are required to understand the pathological mechanisms. However, AEC and RHS mutations in the 5\u2032 and 3\u2032 ends of the <jats:italic>p63<\/jats:italic> gene point towards a critical role of the \u0394Np63\u03b1 isoform for the AEC\/RHS phenotype. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32793","type":"journal-article","created":{"date-parts":[[2009,8,12]],"date-time":"2009-08-12T17:27:06Z","timestamp":1250098026000},"page":"1948-1951","source":"Crossref","is-referenced-by-count":58,"title":["Spectrum of <i>p63<\/i> mutations in a selected patient cohort affected with ankyloblepharon\u2010ectodermal defects\u2010cleft lip\/palate syndrome (AEC)"],"prefix":"10.1002","volume":"149A","author":[{"given":"Tuula","family":"Rinne","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emine","family":"Bolat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rowdy","family":"Meijer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans","family":"Scheffer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans","family":"van Bokhoven","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,8,12]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0009-9163.2004.00278.x"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201004"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.cdd.4401926"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81646-3"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2230.2004.01715.x"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.12.e133"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.7.799"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M300746200"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1610-0387.2007.06379.x"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/302972"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31187"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1177\/154405910308200606"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1206536"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.036442"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.3.221"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.141.12.1567"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31271"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.4161\/cc.6.3.3796"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn094"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jid.5700652"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2230.2005.01722.x"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2006.05.003"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2133.2003.05423.x"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1086\/341450"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1086\/302246"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1086\/323123"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1097-2765(00)80275-0"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.32793","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32793","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,13]],"date-time":"2023-09-13T05:23:36Z","timestamp":1694582616000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32793"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,8,12]]},"references-count":27,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2009,9]]}},"alternative-id":["10.1002\/ajmg.a.32793"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32793","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,8,12]]}}}