{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T11:53:39Z","timestamp":1790855619150,"version":"4.1.0"},"reference-count":27,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2010,11,24]],"date-time":"2010-11-24T00:00:00Z","timestamp":1290556800000},"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":[[2010,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe three patients with a comparable deletion encompassing <jats:italic>SLC25A43<\/jats:italic>, <jats:italic>SLC25A5<\/jats:italic>, <jats:italic>CXorf56<\/jats:italic>, <jats:italic>UBE2A<\/jats:italic>, <jats:italic>NKRF<\/jats:italic>, and two non\u2010coding RNA genes, <jats:italic>U1<\/jats:italic> and <jats:italic>LOC100303728<\/jats:italic>. Moderate to severe intellectual disability (ID), psychomotor retardation, severely impaired\/absent speech, seizures, and urogenital anomalies were present in all three patients. Facial dysmorphisms include ocular hypertelorism, synophrys, and a depressed nasal bridge. These clinical features overlap with those described in two patients from a family with a similar deletion at Xq24 that also includes <jats:italic>UBE2A<\/jats:italic>, and in several patients of Brazilian and Polish families with point mutations in <jats:italic>UBE2A<\/jats:italic>. Notably, all five patients with an Xq24 deletion have ventricular septal defects that are not present in patients with a point mutation, which might be attributed to the deletion of <jats:italic>SLC25A5<\/jats:italic>. Taken together, the <jats:italic>UBE2A<\/jats:italic> deficiency syndrome in male patients with a mutation in or a deletion of <jats:italic>UBE2A<\/jats:italic> is characterized by ID, absent speech, seizures, urogenital anomalies, frequently including a small penis, and skin abnormalities, which include generalized hirsutism, low posterior hairline, myxedematous appearance, widely spaced nipples, and hair whorls. Facial dysmorphisms include a wide face, a depressed nasal bridge, a large mouth with downturned corners, thin vermilion, and a short, broad neck. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33743","type":"journal-article","created":{"date-parts":[[2010,12,3]],"date-time":"2010-12-03T13:36:47Z","timestamp":1291383407000},"page":"3084-3090","source":"Crossref","is-referenced-by-count":31,"title":["<i>UBE2A<\/i> deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients"],"prefix":"10.1002","volume":"152A","author":[{"given":"Nicole","family":"de 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