{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,27]],"date-time":"2025-09-27T14:01:13Z","timestamp":1758981673437},"reference-count":10,"publisher":"Wiley","issue":"13","license":[{"start":{"date-parts":[[2007,6,13]],"date-time":"2007-06-13T00:00:00Z","timestamp":1181692800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2007,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>X\u2010linked hypohidrotic ectodermal dysplasia (XLHED) is caused by mutations in the <jats:italic>EDA<\/jats:italic> gene. A girl with severe hypohidrotic ectodermal dysplasia and normal mental development had completely skewed X chromosome inactivation with only the paternal X active in peripheral blood cells. Routine chromosome analysis and sequencing of the <jats:italic>EDA<\/jats:italic> gene were normal. However, whole chromosome painting revealed a 9;X insertion. FISH analyses with BAC probes towards the <jats:italic>EDA<\/jats:italic> gene and the more distal region containing the <jats:italic>XIST<\/jats:italic> locus showed that an X chromosome fragment of at least 4 Mb containing <jats:italic>XIST<\/jats:italic> was inserted into 9p13 in conjunction with a de novo pericentric inversion of chromosome 9. The proximal breakpoint was within the <jats:italic>EDA<\/jats:italic> gene and the distal breakpoint was distal to the <jats:italic>XIST<\/jats:italic> locus. Both parents had normal chromosomes, and the mother had random X inactivation in peripheral blood cells. Because <jats:italic>XIST<\/jats:italic> was lacking on the X chromosome with the disrupted <jats:italic>EDA<\/jats:italic> gene, the normal X chromosome was inactivated resulting in severe XLHED. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31797","type":"journal-article","created":{"date-parts":[[2007,6,14]],"date-time":"2007-06-14T04:42:05Z","timestamp":1181796125000},"page":"1510-1513","source":"Crossref","is-referenced-by-count":10,"title":["Severe hypohidrotic ectodermal dysplasia in a girl caused by a de novo 9;X insertion that includes <i>XIST<\/i> and disrupts the <i>EDA<\/i> gene"],"prefix":"10.1002","volume":"143A","author":[{"given":"Karen Helene","family":"\u00d8rstavik","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gun Peggy S.","family":"Knudsen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hilde","family":"Nordgarden","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eli","family":"Ormerod","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Petter","family":"Str\u00f8mme","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lazarous P.","family":"Lazarou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lyndon G.","family":"Rosser","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Trine","family":"Prescott","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gunnar","family":"Houge","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,6,13]]},"reference":[{"key":"e_1_2_7_2_1","first-page":"1229","article-title":"Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen\u2010receptor gene correlates with X chromosome inactivation","volume":"51","author":"Allen RC","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0895-409"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00200916"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2002.tb03120.x"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00210814"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/11937"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0888-7543(05)80259-9"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200635"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390100465"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004310100738"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.31797","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31797","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T01:28:30Z","timestamp":1697592510000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31797"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,6,13]]},"references-count":10,"journal-issue":{"issue":"13","published-print":{"date-parts":[[2007,7]]}},"alternative-id":["10.1002\/ajmg.a.31797"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31797","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,6,13]]}}}