{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,9]],"date-time":"2026-02-09T16:29:53Z","timestamp":1770654593100,"version":"3.49.0"},"reference-count":10,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2014,12,18]],"date-time":"2014-12-18T00:00:00Z","timestamp":1418860800000},"content-version":"vor","delay-in-days":17,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2014,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:styled-content style=\"fixed-case\">X<\/jats:styled-content>\u2010linked spondylo\u2010epiphyseal dysplasia tarda (<jats:styled-content style=\"fixed-case\">SEDT<\/jats:styled-content>) is an <jats:styled-content style=\"fixed-case\">X<\/jats:styled-content>\u2010linked recessive, late\u2010onset, progressive skeletal disorder characterized by mild\u2010to\u2010moderate short\u2010trunked short stature. <jats:styled-content style=\"fixed-case\">X<\/jats:styled-content>\u2010linked <jats:styled-content style=\"fixed-case\">SEDT<\/jats:styled-content> is caused by mutations in the gene <jats:italic><jats:styled-content style=\"fixed-case\">TRAPPC<\/jats:styled-content>2<\/jats:italic>, which is located on chromosome <jats:styled-content style=\"fixed-case\">X<\/jats:styled-content>p22. In the present study, we identified a novel splice\u2010site mutation, c.93+1<jats:styled-content style=\"fixed-case\">G<\/jats:styled-content>&gt;<jats:styled-content style=\"fixed-case\">A<\/jats:styled-content>, in <jats:italic><jats:styled-content style=\"fixed-case\">TRAPPC<\/jats:styled-content>2<\/jats:italic> in a 9\u2010year\u2010old <jats:styled-content style=\"fixed-case\">J<\/jats:styled-content>apanese patient who had <jats:styled-content style=\"fixed-case\">X<\/jats:styled-content>\u2010linked <jats:styled-content style=\"fixed-case\">SEDT<\/jats:styled-content> and no family history of the disease. On reverse transcription\u2013polymerase chain reaction, the mutation resulted in a 4\u2009bp frame\u2010shift insertion between exon 3 and exon 4. The present case highlights the importance of genetic analysis for confirmatory diagnosis of <jats:styled-content style=\"fixed-case\">X<\/jats:styled-content>\u2010linked <jats:styled-content style=\"fixed-case\">SEDT<\/jats:styled-content>, especially in cases without a positive family history.<\/jats:p>","DOI":"10.1111\/ped.12397","type":"journal-article","created":{"date-parts":[[2014,12,21]],"date-time":"2014-12-21T18:52:33Z","timestamp":1419187953000},"page":"925-928","source":"Crossref","is-referenced-by-count":4,"title":["Novel <i><scp>TRAPPC<\/scp>2<\/i> mutation in a boy with <scp>X<\/scp>\u2010linked spondylo\u2010epiphyseal dysplasia tarda"],"prefix":"10.1111","volume":"56","author":[{"given":"Hiroyuki","family":"Adachi","sequence":"first","affiliation":[{"name":"Department of Pediatrics Akita University Graduate School of Medicine  Akita Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ikuko","family":"Takahashi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Akita University Graduate School of Medicine  Akita Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tsutomu","family":"Takahashi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Akita University Graduate School of Medicine  Akita Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,12,18]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9254"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.3343\/alm.2012.32.3.234"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/11976"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/320592"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2009.09.016"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2003.00132.x"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/320594"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.219"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2002.610416.x"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1179"}],"container-title":["Pediatrics International"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fped.12397","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fped.12397","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ped.12397","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T17:24:06Z","timestamp":1696181046000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ped.12397"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,12]]},"references-count":10,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2014,12]]}},"alternative-id":["10.1111\/ped.12397"],"URL":"https:\/\/doi.org\/10.1111\/ped.12397","archive":["Portico"],"relation":{},"ISSN":["1328-8067","1442-200X"],"issn-type":[{"value":"1328-8067","type":"print"},{"value":"1442-200X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,12]]}}}