{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,6]],"date-time":"2026-05-06T21:29:11Z","timestamp":1778102951061,"version":"3.51.4"},"reference-count":14,"publisher":"Walter de Gruyter GmbH","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Chemistry and Laboratory Medicine"],"published-print":{"date-parts":[[2010,4,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>\n                  <jats:bold>Background:<\/jats:bold> Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) is an autosomal dominant developmental disorder that includes an eyelid malformation associated with (type I) or without (type II) premature ovarian failure (POF). Mutations in the forkhead transcription factor 2 (<jats:italic>FOXL2<\/jats:italic>) gene, a member of winged\/forkhead transcription factor family, are responsible for both types of BPES. The purpose of this study was to identify mutations in <jats:italic>FOXL2<\/jats:italic> in Taiwanese patients with BPES.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Methods:<\/jats:bold> The karyotype and genomic DNA was prepared from the leukocytes of peripheral venous blood samples. The coding and flanking region sequences of <jats:italic>FOXL2<\/jats:italic> were analyzed by directed or cloning sequencing.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Results:<\/jats:bold> The karyotypes of these patients did not show significant variation, especially on the 3q23 region. Two mutations in <jats:italic>FOXL2<\/jats:italic> were identified in two familial cases. One was c.855-871dup (17-bp insertion) associated with POF. The other was c.384G&gt;A (TGG&gt;TGA), a novel mutation that resulted in non-sense changes of the encoded protein, i.e., p.W128X.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Conclusions:<\/jats:bold> Our results expand the spectrum of <jats:italic>FOXL2<\/jats:italic> mutations and confirm the mutation hotspot in <jats:italic>FOXL2<\/jats:italic> in Taiwanese BPES patients.<\/jats:p>\n               <jats:p>Clin Chem Lab Med 2010;48:485\u20138.<\/jats:p>","DOI":"10.1515\/cclm.2010.100","type":"journal-article","created":{"date-parts":[[2010,2,26]],"date-time":"2010-02-26T12:56:23Z","timestamp":1267188983000},"page":"485-488","source":"Crossref","is-referenced-by-count":8,"title":["<i>FOXL2<\/i> mutations in Taiwanese patients with blepharophimosis, ptosis, epicanthus inversus syndrome"],"prefix":"10.1515","volume":"48","author":[{"given":"Wei-De","family":"Lin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I-Ching","family":"Chou","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, China Medical University Hospital, Taichung, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ni-Chung","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chung-Hsing","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, China Medical University Hospital, Taichung, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wuh-Liang","family":"Hwu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuan-Pei","family":"Lin","sequence":"additional","affiliation":[{"name":"Division of Genetics and Metabolism, Departments of Pediatrics and Medical Research, Mackay Memorial Hospital, Taipei, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mei-Chyn","family":"Chao","sequence":"additional","affiliation":[{"name":"Division of Genetics, Endocrinology and Metabolism, Department of Pediatrics, Kaohsiung Medical University Hospital, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yushin","family":"Tsai","sequence":"additional","affiliation":[{"name":"College of Chinese Medicine, China Medical University, Taichung, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fuu-Jen","family":"Tsai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2010,2,26]]},"reference":[{"key":"p_1","first-page":"1020","volume":"35","author":"Zlotogora J","year":"1983","journal-title":"Am J Hum Genet"},{"key":"p_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320400423"},{"key":"p_3","first-page":"1089","volume":"58","author":"Amati P","year":"1996","journal-title":"Am J Hum Genet"},{"key":"p_4","doi-asserted-by":"publisher","DOI":"10.1006\/geno.2000.6157"},{"key":"p_5","doi-asserted-by":"publisher","DOI":"10.1038\/84781"},{"key":"p_6","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.12.916"},{"key":"p_7","doi-asserted-by":"publisher","DOI":"10.1159\/000074338"},{"key":"p_8","doi-asserted-by":"publisher","DOI":"10.1210\/me.2005-0303"},{"key":"p_9","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0611326104"},{"key":"p_10","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20819"},{"key":"p_11","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20807"},{"key":"p_12","doi-asserted-by":"publisher","DOI":"10.1093\/mutage\/gep028"},{"key":"p_13","first-page":"108","volume":"13","author":"Wang J","year":"2007","journal-title":"Mol Vis"},{"key":"p_14","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-008-0574-9"}],"container-title":["cclm"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/CCLM.2010.100\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/CCLM.2010.100\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,4,7]],"date-time":"2023-04-07T05:04:24Z","timestamp":1680843864000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/CCLM.2010.100\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,2,26]]},"references-count":14,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2010,2,12]]},"published-print":{"date-parts":[[2010,4,1]]}},"alternative-id":["10.1515\/CCLM.2010.100"],"URL":"https:\/\/doi.org\/10.1515\/cclm.2010.100","relation":{},"ISSN":["1437-4331","1434-6621"],"issn-type":[{"value":"1437-4331","type":"electronic"},{"value":"1434-6621","type":"print"}],"subject":[],"published":{"date-parts":[[2010,2,26]]}}}