{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,16]],"date-time":"2026-03-16T23:19:04Z","timestamp":1773703144416,"version":"3.50.1"},"reference-count":16,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2014,10,6]],"date-time":"2014-10-06T00:00:00Z","timestamp":1412553600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Ann Mari och Per Ahlqvist Foundation"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,1]]},"abstract":"<jats:sec><jats:label\/><jats:p>Intragenic mutations of the <jats:italic>UBE2A<\/jats:italic> gene, as well as larger deletions of Xq24 encompassing <jats:italic>UBE2A<\/jats:italic> have in recent years been associated with a syndromic form of X\u2010linked intellectual disability called UBE2A deficiency syndrome or X\u2010linked intellectual disability type Nascimento (OMIM#300860). Common clinical features in these patients include moderate to severe intellectual disability (ID), heart defects, dysmorphic features such as high forehead, synophrys, prominent supraorbital ridges, almond\u2010shaped and deep\u2010set eyes, wide mouth, myxedematous appearance, hirsutism, onychodystrophy, and genital anomalies. This study investigates clinical and molecular data of two unrelated, affected males with chromosome Xq24 deletions encompassing UBE2A. Both have been followed from birth until two years of age. A review of the previously published patients with deletions encompassing UBE2A is provided. Besides the common features, the two boys show anomalies not previously described, such as retinal coloboma, esophageal atresia with esophageal fistula, long fingers, camptodactyly, clinodactyly, and long broad toes. Analyses of the phenotype\u2013genotype correlations suggest considerable prevalence of heart defects in the group of patients with larger deletions of Xq24 in comparison to the patients having intragenic <jats:italic>UBE2A<\/jats:italic> mutations. However, further studies are needed in order to establish statistically reliable phenotype\u2013genotype correlations of this syndrome. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36800","type":"journal-article","created":{"date-parts":[[2014,10,6]],"date-time":"2014-10-06T21:00:34Z","timestamp":1412629234000},"page":"204-210","source":"Crossref","is-referenced-by-count":21,"title":["UBE2A deficiency syndrome: A report of two unrelated cases with large Xq24 deletions encompassing <i>UBE2A<\/i> gene"],"prefix":"10.1002","volume":"167","author":[{"given":"Sofia","family":"Thunstrom","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Sahlgrenska University Hospital Gothenburg Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liv","family":"Sodermark","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Queen Silvia Children's  Hospital Gothenburg Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liz","family":"Ivarsson","sequence":"additional","affiliation":[{"name":"Department of Paediatric Radiology Queen Silvia Children's Hospital Gothenburg Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lena","family":"Samuelsson","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Sahlgrenska University Hospital Gothenburg Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margarita","family":"Stefanova","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Sahlgrenska University Hospital Gothenburg Sweden"},{"name":"Department of Medical and Clinical Genetics Sahlgrenska Academy Institute of Biomedicine University of Gothenburg Gothenburg Sweden"},{"name":"Department of Clinical Genetics Linkoping University Hospital Linkoping Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,10,6]]},"reference":[{"key":"e_1_2_7_2_1","first-page":"1129","article-title":"Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen\u2010receptor gene correlates with X chromosome inactivation","volume":"51","author":"Allen RC","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01429.x"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.12594"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-146"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33743"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.212306199"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2013.04.012"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2010.14"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1183\/09031936.00146811"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M605179200"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/18.22.6415"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1086\/507047"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.367"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.248"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2014.01.004"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-013-1322-3"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36800","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36800","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T01:55:53Z","timestamp":1696643753000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36800"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,10,6]]},"references-count":16,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2015,1]]}},"alternative-id":["10.1002\/ajmg.a.36800"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36800","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,10,6]]}}}