{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T11:54:09Z","timestamp":1790855649041,"version":"4.1.0"},"reference-count":7,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2009,12,10]],"date-time":"2009-12-10T00:00:00Z","timestamp":1260403200000},"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":[[2010,2]]},"abstract":"<jats:p>Badura\u2010Stronka M, Jamsheer A, Materna\u2010Kiryluk A, Sowi\u0144ska A, Kiryluk K, Budny B, Latos\u2010Biele\u0144ska A. A novel nonsense mutation in <jats:italic>CUL4B<\/jats:italic> gene in three brothers with X\u2010linked mental retardation syndrome.<\/jats:p><jats:p>Cabezas syndrome (MIM 300354) is a recently identified syndromic form of X\u2010linked mental retardation (XLMR) caused by mutations in the <jats:italic>CUL4B<\/jats:italic> gene. In total, nine XLMR families carrying mutations in the <jats:italic>CUL4B<\/jats:italic> gene have been described to date. Here, we present a detailed clinical phenotype of three affected brothers of Polish descent. Based on the symptoms, we made a clinical diagnosis of Cabezas syndrome, which was subsequently confirmed by identification of a novel nonsense mutation (c.2107A\u2192T, p.703K\u2192X) in exon 18 of the <jats:italic>CUL4B<\/jats:italic> gene. The mutation was inherited from an asymptomatic mother and was present in all three affected brothers. The patients presented with typical features of Cabezas syndrome, such as severe mental retardation, speech impairment, hyperactivity, seizures, intention tremor, inguinal hernia, small feet, and craniofacial dysmorphism. In addition to previously described symptoms, syndactyly of the second and third toes and skin manifestations (hyperhydrosis and keratosis pilaris) were present in our cases. Our report provides further support that Cabezas syndrome is a recognizable syndromic form of XLMR. We conclude that the <jats:italic>CUL4B<\/jats:italic> gene should be screened in males with severe speech impairment and primary intention tremor, especially if characteristic facial dysmorphism is also present.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2009.01331.x","type":"journal-article","created":{"date-parts":[[2009,12,11]],"date-time":"2009-12-11T01:36:26Z","timestamp":1260495386000},"page":"141-144","source":"Crossref","is-referenced-by-count":52,"title":["A novel nonsense mutation in <i>CUL4B<\/i> gene in three brothers with X\u2010linked mental retardation syndrome"],"prefix":"10.1111","volume":"77","author":[{"given":"M","family":"Badura\u2010Stronka","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Jamsheer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Materna\u2010Kiryluk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Sowi\u0144ska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K","family":"Kiryluk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B","family":"Budny","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Latos\u2010Biele\u0144ska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,1,11]]},"reference":[{"key":"e_1_2_6_2_2","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_2","doi-asserted-by":"publisher","DOI":"10.1086\/511134"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1086\/512489"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/0165-022X(92)90014-2"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0197-74"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1086\/507047"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.367"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1399-0004.2009.01331.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1399-0004.2009.01331.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,31]],"date-time":"2023-10-31T12:36:31Z","timestamp":1698755791000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1399-0004.2009.01331.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,1,11]]},"references-count":7,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2010,2]]}},"alternative-id":["10.1111\/j.1399-0004.2009.01331.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1399-0004.2009.01331.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":[[2010,1,11]]}}}