{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,25]],"date-time":"2026-02-25T06:27:44Z","timestamp":1772000864393,"version":"3.50.1"},"reference-count":23,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,2,25]],"date-time":"2026-02-25T00:00:00Z","timestamp":1771977600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Endocrinol."],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Primary osteoporosis can be caused by pathogenic variants in multiple genes. Recently, rare heterozygous variants in\n                      <jats:italic>SGMS2<\/jats:italic>\n                      , encoding\n                      <jats:italic>SGMS2<\/jats:italic>\n                      , have been identified to cause early-onset osteoporosis or more severe skeletal dysplasia. The incidence of pathogenic\n                      <jats:italic>SGMS2<\/jats:italic>\n                      variants and their consequent clinical features, however, remain limited.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      This study aimed to identify the prevalence and nature of\n                      <jats:italic>SGMS2<\/jats:italic>\n                      variants in Finnish patients with genetically undiagnosed idiopathic early-onset osteoporosis. All eleven exons and exon-intron boundaries of\n                      <jats:italic>SGMS2<\/jats:italic>\n                      were sequenced.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>In a cohort of 44 patients (42 females and two males, median age at the time of recruitment 60 years, range 25\u201376 years), we identified one rare heterozygous missense variant (c.715T&amp;gt;C, p.Phe239Leu) and three intronic variants with unknown functional consequences; no pathogenic or likely pathogenic variants were found.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      Our results suggest that pathogenic variants in\n                      <jats:italic>SGMS2<\/jats:italic>\n                      are not a common cause of early-onset idiopathic osteoporosis in Finnish patients. Further studies in larger cohorts and variable skeletal phenotypes are needed to increase our understanding of the role of\n                      <jats:italic>SGMS2<\/jats:italic>\n                      in skeletal fragility.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fendo.2026.1719375","type":"journal-article","created":{"date-parts":[[2026,2,25]],"date-time":"2026-02-25T05:33:58Z","timestamp":1771997638000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Pathogenic SGMS2 variants are not a common cause of early-onset osteoporosis among Finnish patients"],"prefix":"10.3389","volume":"17","author":[{"given":"Petra","family":"Loid","sequence":"first","affiliation":[{"name":"Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki","place":["Helsinki, Finland"]},{"name":"Genetics Research Program, Folkh\u00e4lsan Research 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