{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,25]],"date-time":"2026-07-25T04:21:38Z","timestamp":1784953298339,"version":"3.55.0"},"reference-count":14,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2010,3,19]],"date-time":"2010-03-19T00:00:00Z","timestamp":1268956800000},"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":[[2010,6]]},"abstract":"Budny B, Badura\u2010Stronka M, Materna\u2010Kiryluk A, Tzschach A, Raynaud M, Latos\u2010Bielenska A, Ropers HH. Novel missense mutations in the ubiquitination\u2010related gene UBE2A<\/jats:italic> cause a recognizable X\u2010linked mental retardation syndrome.<\/jats:p>Recently, a truncating mutation of the UBE2A<\/jats:italic> gene has been observed in a family with X\u2010linked mental retardation (XLMR) (1)<\/jats:ext-link>. The three affected males had similar phenotypes, including seizures, obesity, marked hirsutism and a characteristic facial appearance. Here, we report on two families with a total of seven patients and a clinically very similar syndromic form of XLMR. Linkage analysis was performed in the larger of these families, and screening several positional candidate genes revealed a G23R missense mutation in the UBE2A<\/jats:italic> gene. Subsequent UBE2A<\/jats:italic> screening of a phenotypically similar second family revealed another missense mutation, R11Q, again affecting an evolutionarily conserved amino acid close to the N\u2010terminus of the protein. SIFT and PolyPhen analyses suggest that both mutations are pathogenic, which is supported by their absence in 168 healthy controls. Thus, both missense and truncating mutations can give rise to a specific, syndromic form of XLMR which is identifiable in a clinical setting.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2010.01429.x","type":"journal-article","created":{"date-parts":[[2010,3,20]],"date-time":"2010-03-20T23:44:11Z","timestamp":1269128651000},"page":"541-551","source":"Crossref","is-referenced-by-count":48,"title":["Novel missense mutations in the ubiquitination\u2010related gene UBE2A<\/i> cause a recognizable X\u2010linked mental retardation syndrome"],"prefix":"10.1111","volume":"77","author":[{"given":"B","family":"Budny","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Badura\u2010Stronka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Materna\u2010Kiryluk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Tzschach","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Raynaud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Latos\u2010Bielenska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"HH","family":"Ropers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,5,9]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1086\/507047"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2008.07.008"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201994"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1086\/511134"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1086\/512489"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-006-0210-5"},{"key":"e_1_2_7_8_2","first-page":"1229","article-title":"Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen\u2010receptor gene correlates with X chromosome inactivation","volume":"51","author":"Allen RC","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960712)64:1<27::AID-AJMG3>3.0.CO;2-O"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2121-8-32"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.88.20.8865"},{"key":"e_1_2_7_12_2","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.1996.0011"},{"key":"e_1_2_7_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80154-3"},{"key":"e_1_2_7_14_2","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.24.12.5485-5495.2004"},{"key":"e_1_2_7_15_2","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.23.4.1151-1162.2003"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1399-0004.2010.01429.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1399-0004.2010.01429.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,31]],"date-time":"2023-10-31T11:41:32Z","timestamp":1698752492000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1399-0004.2010.01429.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,5,9]]},"references-count":14,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2010,6]]}},"alternative-id":["10.1111\/j.1399-0004.2010.01429.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1399-0004.2010.01429.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":[[2010,5,9]]}}}