{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,28]],"date-time":"2026-03-28T14:20:38Z","timestamp":1774707638443,"version":"3.50.1"},"reference-count":26,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2020,6,10]],"date-time":"2020-06-10T00:00:00Z","timestamp":1591747200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Guangdong Basic and Applied Basic Research Fund Project","award":["2019A1515010396"],"award-info":[{"award-number":["2019A1515010396"]}]},{"name":"Guangdong Natural Science Foundation Project","award":["2017A030310588"],"award-info":[{"award-number":["2017A030310588"]}]},{"name":"Medical Scientific Research Foundation of Guangdong Province of China","award":["A2020261"],"award-info":[{"award-number":["A2020261"]}]},{"name":"Key Projects of Science and Technology Plan of Dongguan","award":["201750715028452"],"award-info":[{"award-number":["201750715028452"]}]},{"name":"Key Projects of Science and Technology Plan of Dongguan","award":["20185071501001628"],"award-info":[{"award-number":["20185071501001628"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2020,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Mowat\u2010Wilson syndrome (MWS) is a rare genetic disorder characterized by intellectual disability, distinctive facial features, and multiple anomalies caused by haploinsufficiency of\u00a0the ZEB2\u00a0gene. We investigated the genetic causes of MWS in a 14\u2010year\u2010old girl who had characteristic features of MWS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Clinical data and peripheral blood DNA samples were collected from the proband. Following extraction of genomic DNA, whole\u2010exome sequencing was conducted to detect genetic variants. Bioinformatics\u00a0analysis was\u00a0carried\u00a0out\u00a0to predict\u00a0the\u00a0function of the mutant gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Mutation analysis of the proband identified a novel nonsense mutation (c.250G\u00a0&gt;\u00a0T, p.E84*) within exon 3 of the\u00a0ZEB2\u00a0gene. This novel alteration resulted in a termination codon at amino acid position 84, which was predicted to encode a truncated protein. This variant was not present in unrelated healthy control samples that were obtained from the exome sequence databases ExAc browser (<jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"http:\/\/exac.broadinstitute.org\/\">http:\/\/exac.broadinstitute.org\/<\/jats:ext-link>) and gnomAD browser (<jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"http:\/\/gnomad.broadinstitute.org\/\">http:\/\/gnomad.broadinstitute.org\/<\/jats:ext-link>). It is a novel variant that was determined to be a deleterious mutation according to the variant interpretation guidelines of the ACMG. The results of our study suggest that the p.E84* mutation in the\u00a0<jats:italic>ZEB2<\/jats:italic>\u00a0gene was probably the pathogenic mutation that caused MWS in the proband.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This study reports the novel mutation in the proband will provide a basic foundation for further investigations to elucidate the ZEB2\u2010related mechanisms of MWS.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jcla.23413","type":"journal-article","created":{"date-parts":[[2020,6,10]],"date-time":"2020-06-10T11:49:00Z","timestamp":1591789740000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["A novel nonsense mutation of <i>ZEB2<\/i> gene in a Chinese patient with Mowat\u2010Wilson syndrome"],"prefix":"10.1002","volume":"34","author":[{"given":"Yuan","family":"Hu","sequence":"first","affiliation":[{"name":"Department of Pediatrics Hematology Dongguan Children's Hospital Dongguan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qi","family":"Peng","sequence":"additional","affiliation":[{"name":"Department of Medical and Molecular Genetics Dongguan Institute of Pediatrics Dongguan China"},{"name":"Medical laboratory Dongguan Children's Hospital Dongguan China"},{"name":"Key Laboratory for Children's Genetics and Infectious Diseases of Dongguan City Dongguan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Keze","family":"Ma","sequence":"additional","affiliation":[{"name":"Department of Medical and Molecular Genetics Dongguan Institute of Pediatrics Dongguan China"},{"name":"Key Laboratory for Children's Genetics and Infectious Diseases of Dongguan City Dongguan China"},{"name":"Pediatric Intensive Care Unit Dongguan Children's Hospital Dongguan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Siping","family":"Li","sequence":"additional","affiliation":[{"name":"Department of 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