{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:09:32Z","timestamp":1753870172999,"version":"3.41.2"},"reference-count":5,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2016,10,27]],"date-time":"2016-10-27T00:00:00Z","timestamp":1477526400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Respirology Case Reports"],"published-print":{"date-parts":[[2016,11]]},"abstract":"<jats:p>Birt\u2013Hogg\u2013Dub\u00e9 (<jats:styled-content style=\"fixed-case\">BHD<\/jats:styled-content>) syndrome is a rare autosomal dominant disorder that affects the skin, kidney, and lungs. Affected individuals have an increased risk of developing multiple cysts in the lungs and a spontaneous pneumothorax. Germline mutations in the folliculin (<jats:italic>\n<jats:styled-content style=\"fixed-case\">FLCN<\/jats:styled-content>\n<\/jats:italic>) gene have been confirmed as the aetiology of <jats:styled-content style=\"fixed-case\">BHD<\/jats:styled-content> syndrome. A 51\u2010year\u2010old Indonesian female presented with recurrent spontaneous pneumothorax, multiple cysts in both lungs, and a renal cyst on magnetic resonance imaging (MRI). Blood sampling was performed to extract genomic <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> from peripheral blood leucocytes. We identified an aberrant band in the <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> fragment derived from <jats:italic>\n<jats:styled-content style=\"fixed-case\">FLCN<\/jats:styled-content>\n<\/jats:italic> exon 6. Moreover, direct sequencing of <jats:italic>\n<jats:styled-content style=\"fixed-case\">FLCN<\/jats:styled-content>\n<\/jats:italic> exon 6 by denaturing high\u2010performance liquid chromatography (DHPLC) showed a pathogenic mutation, which caused premature termination of folliculin protein translation. This is the first reported case of <jats:styled-content style=\"fixed-case\">BHD<\/jats:styled-content> syndrome in an Indonesian patient confirmed by detection of a <jats:italic>\n<jats:styled-content style=\"fixed-case\">FLCN<\/jats:styled-content>\n<\/jats:italic> exon 6 mutation.<\/jats:p>","DOI":"10.1002\/rcr2.199","type":"journal-article","created":{"date-parts":[[2016,10,28]],"date-time":"2016-10-28T00:46:56Z","timestamp":1477615616000},"source":"Crossref","is-referenced-by-count":0,"title":["Birt\u2013Hogg\u2013Dub\u00e9 syndrome in an Indonesian patient with folliculin gene mutation"],"prefix":"10.1002","volume":"4","author":[{"given":"Wiwien Heru","family":"Wiyono","sequence":"first","affiliation":[{"name":"Department of Pulmonology and Respiratory Medicine Faculty of Medicine, Universitas Indonesia  Jakarta Indonesia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fariz","family":"Nurwidya","sequence":"additional","affiliation":[{"name":"Department of Pulmonology and Respiratory Medicine Faculty of Medicine, Universitas Indonesia  Jakarta Indonesia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hario","family":"Baskoro","sequence":"additional","affiliation":[{"name":"Department of Pulmonology and Respiratory Medicine Faculty of Medicine, Universitas Indonesia  Jakarta Indonesia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andika Chandra","family":"Putra","sequence":"additional","affiliation":[{"name":"Department of Pulmonology and Respiratory Medicine Faculty of Medicine, Universitas Indonesia  Jakarta Indonesia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,10,27]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1977.01640120042005"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ccm.2016.04.010"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.rmed.2011.01.002"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12807"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrurol.2015.206"}],"container-title":["Respirology Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Frcr2.199","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Frcr2.199","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/rcr2.199","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/rcr2.199","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/rcr2.199","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,5]],"date-time":"2023-10-05T00:03:41Z","timestamp":1696464221000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/rcr2.199"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,10,27]]},"references-count":5,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2016,11]]}},"alternative-id":["10.1002\/rcr2.199"],"URL":"https:\/\/doi.org\/10.1002\/rcr2.199","archive":["Portico"],"relation":{},"ISSN":["2051-3380","2051-3380"],"issn-type":[{"type":"print","value":"2051-3380"},{"type":"electronic","value":"2051-3380"}],"subject":[],"published":{"date-parts":[[2016,10,27]]},"article-number":"e00199"}}