{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T15:38:04Z","timestamp":1769096284682,"version":"3.49.0"},"reference-count":12,"publisher":"S. Karger AG","issue":"3-4","license":[{"start":{"date-parts":[[2017,1,1]],"date-time":"2017-01-01T00:00:00Z","timestamp":1483228800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2017,1,1]],"date-time":"2017-01-01T00:00:00Z","timestamp":1483228800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"published-print":{"date-parts":[[2017]]},"abstract":"<b><i>Background and Objectives:<\/i><\/b> Plastin 3 (<i>PLS3<\/i>) mutations are associated with an X-linked osteoporosis. Here we describe two new families with novel mutations, including one with a whole gene <i>PLS3<\/i> deletion, and review the literature on 9 previously reported cases. <b><i>Results:<\/i><\/b> Hemizygous male carriers presented with multiple peripheral bone fractures, low bone mineral density (BMD), and vertebral compression fractures. Heterozygous female carriers did not have a history of fragility fractures, although 1 individual presented with low BMD. Apart from greyish-tinged sclera, no other extraskeletal features of osteogenesis imperfecta were identified. Histomorphometry from a transiliac bone biopsy in one of our index patients demonstrated significantly low trabecular bone volume with increased bone turnover. Bisphosphonate treatment was associated with a reduction in the fracture rate and increased bone density. <b><i>Conclusion:<\/i><\/b> Hemizygous mutations in <i>PLS3<\/i> may cause a monogenic form of X-linked osteoporosis presenting in childhood with a nonspecific phenotype. No characteristic ocular, dental, or joint abnormalities are defined. When genetic testing is undertaken to investigate for primary causes of bone fragility, we suggest <i>PLS3<\/i> be included in order not to miss this diagnosis.<\/jats:p>","DOI":"10.1159\/000477242","type":"journal-article","created":{"date-parts":[[2017,6,12]],"date-time":"2017-06-12T21:01:22Z","timestamp":1497301282000},"page":"298-304","source":"Crossref","is-referenced-by-count":32,"title":["<b><i>PLS3<\/i><\/b> Mutations in X-Linked Osteoporosis: Clinical and Bone Characteristics of Two Novel Mutations"],"prefix":"10.1159","volume":"88","author":[{"given":"Peter","family":"Kannu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Areej","family":"Mahjoub","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Riyana","family":"Babul-Hirji","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melissa\u00a0T.","family":"Carter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer","family":"Harrington","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2017,6,12]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2013.12.040"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.2000.15.11.2245"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1007\/s00198-015-3440-3"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2016.09.056"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0801197"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.81"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1308223"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.2355"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37826"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.2208"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2016.07.022"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2016-2423"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/477242","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/477242","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:27:39Z","timestamp":1745425659000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000477242"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017]]},"references-count":12,"journal-issue":{"issue":"3-4","published-online":{"date-parts":[[2017,10,18]]},"published-print":{"date-parts":[[2017,10,20]]}},"URL":"https:\/\/doi.org\/10.1159\/000477242","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"value":"1663-2818","type":"print"},{"value":"1663-2826","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017]]}}}