{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T02:02:19Z","timestamp":1785808939204,"version":"3.56.0"},"reference-count":21,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2020,12,13]],"date-time":"2020-12-13T00:00:00Z","timestamp":1607817600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Congenital Anomalies"],"published-print":{"date-parts":[[2021,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Large deletions in Xq22 are responsible for neurodevelopmental disorders, including severe intellectual disability and behavioral abnormalities. Although the deletion regions contain <jats:italic>PLP1<\/jats:italic>, the gene related to Pelizaeus\u2010Merzbacher disease (PMD), patients with Xq22 deletions show no clinical features of PMD such as paraplegia and white matter abnormalities. This could be due to skewed X\u2010chromosome inactivation (XCI) occurring predominantly in the affected allele. Isogenic pairs of wild type and mutant induced pluripotent stem cells (iPSCs) were established from the patient. In the iPSC line in which the wild type allele was inactivated, <jats:italic>PLP1<\/jats:italic> was not expressed, but biallelic expression of <jats:italic>BEX2<\/jats:italic> was identified. This suggests that <jats:italic>BEX2<\/jats:italic> escaped from XCI and haploinsufficiency of <jats:italic>BEX2<\/jats:italic> may be related to the phenotype of Xq22 deletions.<\/jats:p>","DOI":"10.1111\/cga.12403","type":"journal-article","created":{"date-parts":[[2020,11,27]],"date-time":"2020-11-27T09:54:53Z","timestamp":1606470893000},"page":"63-67","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Induced pluripotent stem cells established from a female patient with Xq22 deletion confirm that <scp><i>BEX2<\/i><\/scp> escapes from X\u2010chromosome inactivation"],"prefix":"10.1111","volume":"61","author":[{"given":"Keiko","family":"Yamamoto\u2010Shimojima","sequence":"first","affiliation":[{"name":"Institute of Medical Genetics Tokyo Women's Medical genetics  Tokyo 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