{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,25]],"date-time":"2026-07-25T04:21:42Z","timestamp":1784953302547,"version":"3.55.0"},"reference-count":14,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2017,12,28]],"date-time":"2017-12-28T00:00:00Z","timestamp":1514419200000},"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":[[2018,3]]},"abstract":"<jats:sec><jats:label\/><jats:p><jats:italic>UBE2A<\/jats:italic> deficiency is a syndromic condition of X\u2010linked intellectual disability (ID) characterized by typical dysmorphic features that include synophrys, prominent supraorbital ridges, almond\u2010shaped, and deep\u2010set eyes, large ears, wide mouth, myxedematous appearance, hirsutism, micropenis, and onychodystrophy. To date, only seven familial <jats:italic>UBE2A<\/jats:italic> intragenic mutations and nine larger microdeletions encompassing <jats:italic>UBE2A<\/jats:italic> have been reported. Here, we describe two siblings with X\u2010linked ID and typical clinical features of <jats:italic>UBE2A<\/jats:italic> deficiency caused by a novel hemizygous variant, identified by massively parallel sequencing of X\u2010exome. The synonymous c.330G&gt;A substitution in <jats:italic>UBE2A<\/jats:italic> modifies the last nucleotide of exon 5, causing the exon skipping and resulting in an out\u2010of\u2010frame transcript, likely encoding for a truncated form of the ubiquitin\u2010conjugating enzyme E2 A. As confirmed by deep sequencing, the c.330G&gt;A substitution in <jats:italic>UBE2A<\/jats:italic> was undetectable in genomic DNA from maternal blood cells, suggesting that the recurrent <jats:italic>UBE2A<\/jats:italic> deficiency observed in males of this family is caused by a maternal germline mosaicism.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38589","type":"journal-article","created":{"date-parts":[[2017,12,28]],"date-time":"2017-12-28T11:28:43Z","timestamp":1514460523000},"page":"722-726","source":"Crossref","is-referenced-by-count":11,"title":["<i>UBE2A<\/i> deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism"],"prefix":"10.1002","volume":"176","author":[{"given":"Teresa","family":"Giugliano","sequence":"first","affiliation":[{"name":"Dipartimento di Biochimica, Biofisica e Patologia Generale Universit\u00e0 degli Studi della Campania \u201cLuigi Vanvitelli,\u201d Naples 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