{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T15:09:00Z","timestamp":1790694540582,"version":"4.1.0"},"reference-count":25,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2014,4,8]],"date-time":"2014-04-08T00:00:00Z","timestamp":1396915200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100007449","name":"Takeda Science Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100007449","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,8]]},"abstract":"<jats:sec><jats:label\/><jats:p>Mowat\u2013Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by moderate or severe intellectual disability, a characteristic facial appearance, microcephaly, epilepsy, agenesis or hypoplasia of the corpus callosum, congenital heart defects, Hirschsprung disease, and urogenital\/renal anomalies. It is caused by de novo heterozygous loss of function mutations including nonsense mutations, frameshift mutations, and deletions in <jats:italic>ZEB2<\/jats:italic> at 2q22. <jats:italic>ZEB2<\/jats:italic> encodes the zinc finger E\u2010box binding homeobox 2 protein consisting of 1,214 amino acids. Herein, we report 13 nonsense and 27 frameshift mutations from 40 newly identified MWS patients in Japan. Although the clinical findings of all the Japanese MWS patients with nonsense and frameshift mutations were quite similar to the previous review reports of MWS caused by nonsense mutations, frameshift mutations and deletions of <jats:italic>ZEB2<\/jats:italic>, the frequencies of microcephaly, Hirschsprung disease, and urogenital\/renal anomalies were small. Patients harbored mutations spanning the region between the amino acids 55 and 1,204 in wild\u2010type ZEB2. There was no obvious genotype\u2013phenotype correlation among the patients. A transfection study demonstrated that the cellular level of the longest form of the mutant ZEB2 protein harboring the p.D1204Rfs*29 mutation was remarkably low. The results showed that the 3\u2032\u2010end frameshift mutation of <jats:italic>ZEB2<\/jats:italic> causes MWS due to ZEB2 instability. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36551","type":"journal-article","created":{"date-parts":[[2014,4,8]],"date-time":"2014-04-08T21:53:33Z","timestamp":1396994013000},"page":"1899-1908","source":"Crossref","is-referenced-by-count":41,"title":["The spectrum of <i>ZEB2<\/i> mutations causing the Mowat\u2013Wilson syndrome in Japanese populations"],"prefix":"10.1002","volume":"164","author":[{"given":"Yasukazu","family":"Yamada","sequence":"first","affiliation":[{"name":"Department of Genetics Institute for Developmental Research Aichi Human Service Center Kasugai Aichi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noriko","family":"Nomura","sequence":"additional","affiliation":[{"name":"Department of Genetics Institute for Developmental Research Aichi Human Service Center Kasugai 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