{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T22:47:45Z","timestamp":1773874065472,"version":"3.50.1"},"reference-count":21,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,12,1]],"date-time":"2023-12-01T00:00:00Z","timestamp":1701388800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The <jats:italic>OTUD5<\/jats:italic> gene encodes a deubiquitinating enzyme (DUB) of the OTU family. Variants of <jats:italic>OTUD5<\/jats:italic> are associated with X\u2010linked multiple congenital anomalies\u2010neurodevelopmental syndrome (MCAND). The case described in this study expands the clinical and molecular spectrum of <jats:italic>OTUD5<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Trio\u2010based clinical exome sequencing (trio\u2010CES) was performed on a Chinese boy with a clinical phenotype and both of his parents. Sanger sequencing was employed for validation of the variant detected.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The patient presented with characteristic facial features, intellectual disability, motor\/language\/cognitive, and global developmental delays, limb contractures, and kidney abnormalities, and trio\u2010CES identified a de novo missense variant, c.1305T&gt;A, of the <jats:italic>OTUD5<\/jats:italic> gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>We describe <jats:italic>OTUD5<\/jats:italic> gene variation in the Chinese population, with the first report of this variant. Additionally, we provide a comprehensive summary of all published cases of MCAND to date, in order to elucidate the primary clinical features of the syndrome and the variability in phenotype severity. This case expands the genetic and clinical phenotypic spectrum of <jats:italic>OTUD5<\/jats:italic>\u2010associated MCAND.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2325","type":"journal-article","created":{"date-parts":[[2023,12,1]],"date-time":"2023-12-01T10:11:31Z","timestamp":1701425491000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A novel missense variant in <scp><i>OTUD5<\/i><\/scp> causes X\u2010linked multiple congenital anomalies\u2010neurodevelopmental syndrome"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-3843-3860","authenticated-orcid":false,"given":"Weifang","family":"Tian","sequence":"first","affiliation":[{"name":"Prenatal Diagnosis Center, The Third Affiliated Hospital of Zhengzhou University, Maternal and Child Health Hospital of Henan Province  Zhengzhou 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