{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,3]],"date-time":"2025-09-03T09:56:12Z","timestamp":1756893372175,"version":"3.41.2"},"reference-count":40,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2020,11,9]],"date-time":"2020-11-09T00:00:00Z","timestamp":1604880000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81873668"],"award-info":[{"award-number":["81873668"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Osteogenesis imperfecta (OI) is a phenotypically and genetically heterogeneous bone disease characterized by bone fragility and recurrent fractures. X\u2010linked inherited OI with mutation in <jats:italic>PLS3<\/jats:italic> is so rare that its genotype\u2013phenotype characteristics are not available.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We designed a novel targeted next\u2010generation sequencing (NGS) panel with the candidate genes of OI to detect pathogenic mutations and confirmed them by Sanger sequencing. The phenotypes of the patients were also investigated.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The proband, a 12\u2010year\u2010old boy from a nonconsanguineous family, experienced multiple fractures of long bones and vertebrae and had low bone mineral density (BMD Z\u2010score of \u22123.2 to \u22122.0). His younger brother also had extremity fractures. A novel frameshift mutation (c.1106_1107insGAAA; p.Phe369Leufs*5) in exon 10 of <jats:italic>PLS3<\/jats:italic> was identified in the two patients, which was inherited from their mother who had normal BMD. Blue sclerae were the only extraskeletal symptom in all affected individuals. Zoledronic acid was beneficial for increasing BMD and reshaping the compressed vertebral bodies of the proband.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We first identify a novel mutation in <jats:italic>PLS3<\/jats:italic> that led to rare X\u2010linked OI and provide practical information for the diagnosis and treatment of this disease.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1525","type":"journal-article","created":{"date-parts":[[2020,11,9]],"date-time":"2020-11-09T17:25:47Z","timestamp":1604942747000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["A novel mutation in <i>PLS3<\/i> causes extremely rare X\u2010linked osteogenesis imperfecta"],"prefix":"10.1002","volume":"8","author":[{"given":"Jing","family":"Hu","sequence":"first","affiliation":[{"name":"Department of Endocrinology National Health Commission Key Laboratory of Endocrinology Peking Union Medical College 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