{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T16:00:22Z","timestamp":1791043222238,"version":"4.1.0"},"reference-count":13,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2009,12,11]],"date-time":"2009-12-11T00:00:00Z","timestamp":1260489600000},"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":[[2010,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The <jats:italic>CUL4B<\/jats:italic> gene encodes a member of Cullin\u2013RING ubiquitin ligase complex. Point mutations in <jats:italic>CUL4B<\/jats:italic> were identified recently in patients with syndromic X\u2010linked mental retardation (XLMR). Here, using oligoarray\u2010based comparative genomic hybridization (array CGH), we identified a de novo deletion of the <jats:italic>CUL4B<\/jats:italic> gene in a boy with syndromic mental retardation, minor facial anomalies, short stature, delayed puberty, hypogonadism, relative macrocephaly, gait ataxia, and pes cavus, all manifestations described previously in patients with <jats:italic>CUL4B<\/jats:italic> point mutations. Interestingly, our patient also presented with aortic valvular \u201cdysplasia\u201d and vertebral anomalies similar to those seen in Scheuermann disease, both of which may also be part of this syndrome. This report further suggests that point mutations and deletions of the <jats:italic>CUL4B<\/jats:italic> gene lead to a recognizable phenotype. The association of facial anomalies, short stature, hypogonadism, and gait ataxia in a mentally retarded boy should prompt molecular analyses of the <jats:italic>CUL4B<\/jats:italic> gene. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33152","type":"journal-article","created":{"date-parts":[[2009,12,11]],"date-time":"2009-12-11T22:12:40Z","timestamp":1260569560000},"page":"175-180","source":"Crossref","is-referenced-by-count":52,"title":["Deletion of the <i>CUL4B<\/i> gene in a boy with mental retardation, minor facial anomalies, short stature, hypogonadism, and ataxia"],"prefix":"10.1002","volume":"152A","author":[{"given":"Bertrand","family":"Isidor","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Pichon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabine","family":"Baron","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albert","family":"David","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9dric","family":"Le Caignec","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,12,23]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1136\/jmg.37.9.663","article-title":"A new X\u2010linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24\u2010q25","volume":"37","author":"Cabezas DA","year":"2000","journal-title":"J Med Genet"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201994"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1628"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.mop.0000133634.79661.cd"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1352\/0895-8017(2001)106<0231:POMRAD>2.0.CO;2"},{"key":"e_1_2_6_7_1","doi-asserted-by":"crossref","unstructured":"Le CaignecC WinerN BocenoM DelnatteC PodevinG LietJM QuereMP JoubertM RivalJM.2003.Prenatal diagnosis of sacrococcygeal teratoma with constitutional partial monosomy 7q\/trisomy 2p.Prenat Diagn23:981\u2013984.","DOI":"10.1002\/pd.742"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1006\/meth.2001.1262"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.leukres.2008.08.012"},{"key":"e_1_2_6_10_1","first-page":"4233","article-title":"A novel candidate oncogene, MCT\u20101, is involved in cell cycle progression","volume":"58","author":"Prosniak M","year":"1998","journal-title":"Cancer Res"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/511134"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.367"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470302"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1086\/512489"}],"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.33152","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33152","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T20:35:19Z","timestamp":1697056519000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33152"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,12,23]]},"references-count":13,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2010,1]]}},"alternative-id":["10.1002\/ajmg.a.33152"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33152","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,12,23]]}}}