{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T12:09:09Z","timestamp":1762430949045,"version":"3.40.4"},"reference-count":16,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neonatology"],"published-print":{"date-parts":[[2015]]},"abstract":"<jats:p>Wiskott-Aldrich syndrome (WAS) is an X-linked disease characterized by microthrombocytopenia, eczema and immune deficiency, caused primarily by mutations in the &lt;i&gt;WASP&lt;\/i&gt; (Wiskott-Aldrich syndrome protein) gene. Female carriers are usually asymptomatic because of the preferential activation of the normal, nonmutated X-chromosome in their hematopoietic cells. We report our observations of a female child with WAS, who displayed symptoms of congenital thrombocytopenia. DNA sequencing analysis of the &lt;i&gt;WASP&lt;\/i&gt; gene revealed a heterozygous nonsense mutation in exon 10. The expressions of WASP and normal &lt;i&gt;WASP&lt;\/i&gt; mRNA were defective. We found preferential inactivation of the X-chromosome on which wild-type &lt;i&gt;WASP&lt;\/i&gt; was located. Single-nucleotide polymorphism microarray testing and the analysis of the polymorphic variable number of tandem repeat regions revealed maternal uniparental isodisomy of chromosome 6 (UPD6). Our results underscore the importance of WASP evaluation in females with congenital thrombocytopenia and suggest that UPD6 might be related to the pathophysiology of nonrandom X-chromosome inactivation.<\/jats:p>","DOI":"10.1159\/000370059","type":"journal-article","created":{"date-parts":[[2015,1,26]],"date-time":"2015-01-26T08:00:46Z","timestamp":1422259246000},"page":"185-190","source":"Crossref","is-referenced-by-count":18,"title":["Wiskott-Aldrich Syndrome in a Girl Caused by Heterozygous &lt;b&gt;&lt;i&gt;WASP&lt;\/i&gt;&lt;\/b&gt; Mutation and Extremely Skewed X-Chromosome Inactivation: A Novel Association with Maternal Uniparental Isodisomy 6"],"prefix":"10.1159","volume":"107","author":[{"given":"Tomohito","family":"Takimoto","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hidetoshi","family":"Takada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masataka","family":"Ishimura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Makiko","family":"Kirino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenichiro","family":"Hata","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Osamu","family":"Ohara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomohiro","family":"Morio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshiro","family":"Hara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2015,1,24]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1111\/nyas.12049"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90528-2"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1172\/JCI118712"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81050-8"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.174.5.2602"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2005.09.006"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199801293380504"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-1759(01)00549-X"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20110896"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016\/S0024-3205(97)00686-3"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1038\/190372a0"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-013-9927-9"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199801293380611"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33526"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30270"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35965"}],"container-title":["Neonatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/370059","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/370059","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T18:08:55Z","timestamp":1745431735000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000370059"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015]]},"references-count":16,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2015,3,1]]},"published-print":{"date-parts":[[2015,3,26]]}},"URL":"https:\/\/doi.org\/10.1159\/000370059","archive":["Portico"],"relation":{},"ISSN":["1661-7800","1661-7819"],"issn-type":[{"type":"print","value":"1661-7800"},{"type":"electronic","value":"1661-7819"}],"subject":[],"published":{"date-parts":[[2015]]}}}