{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T09:56:50Z","timestamp":1753869410369,"version":"3.41.2"},"reference-count":22,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2020,4,22]],"date-time":"2020-04-22T00:00:00Z","timestamp":1587513600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100014718","name":"Innovative Research Group Project of the National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81000079","81170165","81870959 to X.Z"],"award-info":[{"award-number":["81000079","81170165","81870959 to X.Z"]}],"id":[{"id":"10.13039\/100014718","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Gene Medicine"],"published-print":{"date-parts":[[2020,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>X\u2010linked intellectual disability type Nascimento, also known as UBE2A deficiency syndrome, is an intellectual disability syndrome characterized by moderate to severe intellectual disability, dysmorphic facial features, speech impairment, genital anomalies and skin abnormalities. The syndrome is caused by mutations of the <jats:italic>UBE2A<\/jats:italic> gene, or larger deletions of Xq24 encompassing <jats:italic>UBE2A.<\/jats:italic><\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We report the case of a 19\u2010year\u2010old male with UBE2A deficiency syndrome, who showed severe intellectual disability and seizures. Whole exome sequencing and Sanger sequencing were used to identify the disease\u2010causing mutations in this patient.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A novel hemizygous missense <jats:italic>UBE2A<\/jats:italic> mutation (c.TAT245TGT, p.Tyr82Cys) was identified in our patient. The heterozygous missense <jats:italic>UBE2A<\/jats:italic> mutation was identified in his mother, although not in his father or sister.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The present study identified a novel <jats:italic>UBE2A<\/jats:italic> mutation in a patient with severe intellectual disability and seizures. Our findings expand the mutational spectrum of the <jats:italic>UBE2A<\/jats:italic> gene.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jgm.3191","type":"journal-article","created":{"date-parts":[[2020,3,28]],"date-time":"2020-03-28T18:51:52Z","timestamp":1585421512000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A novel <i>UBE2A<\/i> mutation in a Chinese family with X\u2010linked intellectual disability"],"prefix":"10.1002","volume":"22","author":[{"given":"Weimin","family":"Jia","sequence":"first","affiliation":[{"name":"Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology and Center for Human Genome Research Huazhong University of Science and Technology  Wuhan Hubei China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qi","family":"Hu","sequence":"additional","affiliation":[{"name":"Department of Geriatrics, Tongji Hospital, Tongji Medical College Huazhong University of Science and Technology  Wuhan Hubei China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanling","family":"Wu","sequence":"additional","affiliation":[{"name":"Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology and Center for Human Genome Research Huazhong University of Science and Technology  Wuhan Hubei China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiarui","family":"Wang","sequence":"additional","affiliation":[{"name":"Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology and Center for Human Genome Research Huazhong University of Science and Technology  Wuhan Hubei China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhenxing","family":"Liu","sequence":"additional","affiliation":[{"name":"Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and 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