{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T02:47:51Z","timestamp":1787021271887,"version":"build-2736575974"},"reference-count":47,"publisher":"The Endocrine Society","issue":"7","license":[{"start":{"date-parts":[[2022,3,11]],"date-time":"2022-03-11T00:00:00Z","timestamp":1646956800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002347","name":"BMBF","doi-asserted-by":"publisher","award":["01EC1402"],"award-info":[{"award-number":["01EC1402"]}],"id":[{"id":"10.13039\/501100002347","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,6,16]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Context<\/jats:title>\n                    <jats:p>Many different inherited and acquired conditions can result in premature bone fragility\/low bone mass disorders (LBMDs).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>We aimed to elucidate the impact of genetic testing on differential diagnosis of adult LBMDs and at defining clinical criteria for predicting monogenic forms.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Four clinical centers broadly recruited a cohort of 394 unrelated adult women before menopause and men younger than 55 years with a bone mineral density (BMD) Z-score\u2005&amp;lt;\u2005-2.0 and\/or pathological fractures. After exclusion of secondary causes or unequivocal clinical\/biochemical hallmarks of monogenic LBMDs, all participants were genotyped by targeted next-generation sequencing.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>In total, 20.8% of the participants carried rare disease-causing variants (DCVs) in genes known to cause osteogenesis imperfecta (COL1A1, COL1A2), hypophosphatasia (ALPL), and early-onset osteoporosis (LRP5, PLS3, and WNT1). In addition, we identified rare DCVs in ENPP1, LMNA, NOTCH2, and ZNF469. Three individuals had autosomal recessive, 75 autosomal dominant, and 4 X-linked disorders. A total of 9.7% of the participants harbored variants of unknown significance. A regression analysis revealed that the likelihood of detecting a DCV correlated with a positive family history of osteoporosis, peripheral fractures (&amp;gt; 2), and a high normal body mass index (BMI). In contrast, mutation frequencies did not correlate with age, prevalent vertebral fractures, BMD, or biochemical parameters. In individuals without monogenic disease-causing rare variants, common variants predisposing for low BMD (eg, in LRP5) were overrepresented.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>The overlapping spectra of monogenic adult LBMD can be easily disentangled by genetic testing and the proposed clinical criteria can help to maximize the diagnostic yield.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1210\/clinem\/dgac147","type":"journal-article","created":{"date-parts":[[2022,3,11]],"date-time":"2022-03-11T13:10:56Z","timestamp":1647004256000},"page":"e3048-e3057","source":"Crossref","is-referenced-by-count":28,"title":["Genetic Diagnostics in Routine Osteological Assessment of Adult Low Bone Mass Disorders"],"prefix":"10.1210","volume":"107","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9449-5013","authenticated-orcid":false,"given":"Ralf","family":"Oheim","sequence":"first","affiliation":[{"name":"Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf , 22529 Hamburg , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9582-1906","authenticated-orcid":false,"given":"Elena","family":"Tsourdi","sequence":"additional","affiliation":[{"name":"Department of Medicine III, Technische Universit\u00e4t Dresden Medical Center , 01307 Dresden , Germany"},{"name":"Center for Healthy Aging, Technische Universit\u00e4t Dresden Medical Center , 01307 Dresden , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1154-3388","authenticated-orcid":false,"given":"Lothar","family":"Seefried","sequence":"additional","affiliation":[{"name":"Orthopedic Center for Musculoskeletal Research, Orthopedic Department, University of W\u00fcrzburg , 97070 W\u00fcrzburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gisela","family":"Beller","sequence":"additional","affiliation":[{"name":"Centre of Muscle and Bone Research, Charit\u00e9-Universit\u00e4tsmedizin Berlin , 13353 Berlin , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Max","family":"Schubach","sequence":"additional","affiliation":[{"name":"Berlin Institute of Health at Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin , 13353 Berlin , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3737-6402","authenticated-orcid":false,"given":"Eik","family":"Vettorazzi","sequence":"additional","affiliation":[{"name":"Department of Medical Biometry and Epidemiology, University Medical Center Hamburg-Eppendorf , 20246 Hamburg , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julian","family":"St\u00fcrznickel","sequence":"additional","affiliation":[{"name":"Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf , 22529 Hamburg , Germany"},{"name":"Department of Orthopaedics and Trauma Surgery, University Medical Center Hamburg-Eppendorf , 20246 Hamburg , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tim","family":"Rolvien","sequence":"additional","affiliation":[{"name":"Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf , 22529 Hamburg , Germany"},{"name":"Department of Orthopaedics and Trauma Surgery, University Medical Center Hamburg-Eppendorf , 20246 Hamburg , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadja","family":"Ehmke","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Human Genetics, Charit\u00e9 - Universit\u00e4tsmedizin Berlin, Corporate Member of Freie Universit\u00e4t Berlin, Humboldt-Universit\u00e4t zu Berlin, and Berlin Institute of Health , 13353 Berlin , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alena","family":"Delsmann","sequence":"additional","affiliation":[{"name":"Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf , 22529 Hamburg , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franca","family":"Genest","sequence":"additional","affiliation":[{"name":"Orthopedic Center for Musculoskeletal Research, Orthopedic Department, University of W\u00fcrzburg , 97070 W\u00fcrzburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrike","family":"Kr\u00fcger","sequence":"additional","affiliation":[{"name":"Core Facility Genomics, Berlin Institute of Health (BIH) , 10178 Berlin , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomasz","family":"Zemojtel","sequence":"additional","affiliation":[{"name":"Core Facility Genomics, Berlin Institute of Health (BIH) , 10178 Berlin , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florian","family":"Barvencik","sequence":"additional","affiliation":[{"name":"Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf , 22529 Hamburg , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thorsten","family":"Schinke","sequence":"additional","affiliation":[{"name":"Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf , 22529 Hamburg , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franz","family":"Jakob","sequence":"additional","affiliation":[{"name":"Orthopedic Center for Musculoskeletal Research, Orthopedic Department, University of W\u00fcrzburg , 97070 W\u00fcrzburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorenz C","family":"Hofbauer","sequence":"additional","affiliation":[{"name":"Department of Medicine III, Technische Universit\u00e4t Dresden Medical Center , 01307 Dresden , Germany"},{"name":"Center for Healthy Aging, Technische Universit\u00e4t Dresden Medical Center , 01307 Dresden , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"Mundlos","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Human Genetics, Charit\u00e9 - Universit\u00e4tsmedizin Berlin, Corporate Member of Freie Universit\u00e4t Berlin, Humboldt-Universit\u00e4t zu Berlin, and Berlin Institute of Health , 13353 Berlin , Germany"},{"name":"BIH Center for Regenerative Therapies, Charit\u00e9 - Universit\u00e4tsmedizin Berlin, Corporate Member of Freie Universit\u00e4t Berlin, Humboldt-Universit\u00e4t zu Berlin, and Berlin Institute of Health , 10178 Berlin , Germany"},{"name":"Max Planck Institute for Molecular Genetics , 14195 Berlin , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4582-9838","authenticated-orcid":false,"given":"Uwe","family":"Kornak","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Human Genetics, Charit\u00e9 - Universit\u00e4tsmedizin Berlin, Corporate Member of Freie Universit\u00e4t Berlin, Humboldt-Universit\u00e4t zu Berlin, and Berlin Institute of Health , 13353 Berlin , Germany"},{"name":"BIH Center for Regenerative Therapies, Charit\u00e9 - Universit\u00e4tsmedizin Berlin, Corporate Member of Freie Universit\u00e4t Berlin, Humboldt-Universit\u00e4t zu Berlin, and Berlin Institute of Health , 10178 Berlin , Germany"},{"name":"Max Planck Institute for Molecular Genetics , 14195 Berlin , Germany"},{"name":"Institute of Human Genetics, Universit\u00e4tsmedizin G\u00f6ttingen , G\u00f6ttingen 37073 , 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