{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,28]],"date-time":"2025-11-28T05:07:59Z","timestamp":1764306479394,"version":"3.46.0"},"reference-count":23,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2022,7,11]],"date-time":"2022-07-11T00:00:00Z","timestamp":1657497600000},"content-version":"vor","delay-in-days":10,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100017695","name":"Health Commission of Hunan Province","doi-asserted-by":"publisher","award":["B2019138"],"award-info":[{"award-number":["B2019138"]}],"id":[{"id":"10.13039\/100017695","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2022,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>X\u2010linked intellectual disability type Nascimento (XLID) is a rare disease caused by variants in the ubiquitin\u2010conjugating enzyme E2A gene (UBE2A). Patients with XLID have similar phenotypes, including speech impairments, severe intellectual disability, hearing loss, wide facies, synophrys, generalized hirsutism, and urogenital abnormalities. Till date, only two splice\u2010site variants of the UBE2A gene have been observed in patients with X\u2010linked ID type Nascimento. Here, we report the case of a Chinese boy with a syndrome clinically similar to XLID with speech impairment, severe intellectual disability, and moderate hearing loss. However, different characteristics were also present in the patient, including an inability to maintain his head in an upright posture. Both of the patient's palms have a single transverse palmar crease. Subsequent whole\u2010exome sequencing revealed a novel splice site variant in UBE2A (c.241\u2009+\u20091\u00a0G\u2009&gt;\u2009A). Our study not only expands the variant spectrum and clinical characteristics of UBE2A deficiency syndrome but also provides clinical evidence for genetic diagnoses.<\/jats:p>","DOI":"10.1002\/ccr3.5990","type":"journal-article","created":{"date-parts":[[2022,7,11]],"date-time":"2022-07-11T05:25:38Z","timestamp":1657517138000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A novel\n                    <scp>UBE2A<\/scp>\n                    splice site variant causing intellectual disability type Nascimento"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2901-7776","authenticated-orcid":false,"given":"Shuyuan","family":"Yan","sequence":"first","affiliation":[{"name":"Changsha Maternal and Child Health Hospital Affiliated to Hunan Normal University  Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4794-3623","authenticated-orcid":false,"given":"Yanling","family":"Wang","sequence":"additional","affiliation":[{"name":"Changsha Maternal and Child Health Hospital Affiliated to Hunan Normal University  Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ying","family":"Chen","sequence":"additional","affiliation":[{"name":"Changsha Maternal and Child Health Hospital Affiliated to Hunan Normal University  Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hongxia","family":"Yuan","sequence":"additional","affiliation":[{"name":"Changsha Maternal and Child Health Hospital Affiliated to Hunan Normal University  Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoni","family":"Kuang","sequence":"additional","affiliation":[{"name":"Changsha Maternal and Child Health Hospital Affiliated to Hunan Normal University  Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Da","family":"Hou","sequence":"additional","affiliation":[{"name":"Changsha Maternal and Child Health Hospital Affiliated to Hunan Normal University  Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xueyi","family":"Li","sequence":"additional","affiliation":[{"name":"Changsha Maternal and Child Health Hospital Affiliated to Hunan Normal University  Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Linglin","family":"Pan","sequence":"additional","affiliation":[{"name":"Changsha Maternal and Child Health Hospital Affiliated to Hunan Normal University  Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guangwen","family":"Huang","sequence":"additional","affiliation":[{"name":"Hunan Provincial Maternal and Child Health Care Hospital  Changsha 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China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,7,11]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.06.013"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-020-17452-6"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61755"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13667"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-020-0589-9"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38710"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36800"},{"issue":"5","key":"e_1_2_10_9_1","first-page":"7362","article-title":"High expression of ubiquitin\u2010conjugating enzyme E2A predicts poor prognosis in hepatocellular carcinoma","volume":"15","author":"Shen JD","year":"2018","journal-title":"Oncol 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