{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,28]],"date-time":"2025-11-28T11:54:15Z","timestamp":1764330855318},"reference-count":18,"publisher":"Springer Science and Business Media LLC","issue":"1","content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:p>X-linked intellectual disability type Nascimento (MIM #300860), caused by mutations in <jats:italic>UBE2A<\/jats:italic> (MIM *312180), is characterized by craniofacial dysmorphism (synophrys, prominent supraorbital ridges, deep-set, almond-shaped eyes, depressed nasal bridge, prominent columella, hypoplastic alae nasi, and macrostomia), skin anomalies (hirsutism, myxedematous appearance, onychodystrophy), micropenis, moderate to severe intellectual disability (ID), motor delay, impaired\/absent speech, and seizures. Hitherto only five familial point mutations and four different deletions including <jats:italic>UBE2A<\/jats:italic> have been reported in the literature.<\/jats:p>\n          <jats:p>We present eight additional individuals from five families with <jats:italic>UBE2A<\/jats:italic> associated ID - three males from a consanguineous family, in whom we identified a small deletion of only 7.1\u00a0kb encompassing the first three exons of <jats:italic>UBE2A<\/jats:italic>, two related males with a <jats:italic>UBE2A<\/jats:italic> missense mutation in exon 4, a patient with a <jats:italic>de novo<\/jats:italic> nonsense mutation in exon 6, and two sporadic males with larger deletions including <jats:italic>UBE2A<\/jats:italic>. All affected male individuals share the typical clinical phenotype, all carrier females are unaffected and presented with a completely skewed X inactivation in blood. We conclude that 1.) X-linked intellectual disability type Nascimento is a clinically very distinct entity that might be underdiagnosed to date. 2.) So far, all females carrying a familial <jats:italic>UBE2A<\/jats:italic> aberration have a completely skewed X inactivation and are clinically unaffected. This should be taken in to account when counselling those families. 3.) The coverage of an array should be checked carefully prior to analysis since not all arrays have a sufficient resolution at specific loci, or alternative quantitative methods should be applied not to miss small deletions.<\/jats:p>","DOI":"10.1186\/1750-1172-8-146","type":"journal-article","created":{"date-parts":[[2013,9,21]],"date-time":"2013-09-21T19:02:45Z","timestamp":1379790165000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity"],"prefix":"10.1186","volume":"8","author":[{"given":"Johanna Christina","family":"Czeschik","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Bauer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karin","family":"Buiting","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia","family":"Dufke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Encarna","family":"Guill\u00e9n-Navarro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diana S","family":"Johnson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Udo","family":"Koehler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vanesa","family":"L\u00f3pez-Gonz\u00e1lez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hermann-Josef","family":"L\u00fcdecke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alison","family":"Male","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deborah","family":"Morrogh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angelika","family":"Rie\u00df","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreas","family":"Tzschach","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dagmar","family":"Wieczorek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alma","family":"Kuechler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2013,9,21]]},"reference":[{"key":"800_CR1","doi-asserted-by":"publisher","first-page":"161","DOI":"10.1146\/annurev-genom-082509-141640","volume":"11","author":"HH Ropers","year":"2010","unstructured":"Ropers HH: Genetics of early onset cognitive impairment. 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