{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T03:14:18Z","timestamp":1791429258953,"version":"4.3.3"},"reference-count":72,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2024,1,27]],"date-time":"2024-01-27T00:00:00Z","timestamp":1706313600000},"content-version":"vor","delay-in-days":1152,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2023,4,19]],"date-time":"2023-04-19T00:00:00Z","timestamp":1681862400000},"content-version":"vor","delay-in-days":869,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100018722","name":"Jaap Schouten Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100018722","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["APP1143364"],"award-info":[{"award-number":["APP1143364"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100018722","name":"Jaap Schouten Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100018722","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["APP1143364"],"award-info":[{"award-number":["APP1143364"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["asbmr.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2020,12,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Atypical femur fractures (AFFs), considered rare associations of bisphosphonates, have also been reported in patients with monogenic bone disorders without bisphosphonate use. The exact association between AFFs and monogenic bone disorders remains unknown. Our aim was to determine the prevalence of monogenic bone disorders in a Dutch AFF cohort. AFF patients were recruited from two specialist bone centers in the Netherlands. Medical records of the AFF patients were reviewed for clinical features of monogenic bone disorders. Genetic variants identified by whole-exome sequencing in 37 candidate genes involved in monogenic bone disorders were classified based on the American College of Medical Genetics and Genomics (ACMG) classification guidelines. Copy number variations overlapping the candidate genes were also evaluated using DNA array genotyping data. The cohort comprises 60 AFF patients (including a pair of siblings), with 95% having received bisphosphonates. Fifteen AFF patients (25%) had clinical features of monogenic bone disorders. Eight of them (54%), including the pair of siblings, had a (likely) pathogenic variant in either PLS3, COL1A2, LRP5, or ALPL. One patient carried a likely pathogenic variant in TCIRG1 among patients not suspected of monogenic bone disorders (2%). In total, nine patients in this AFF cohort (15%) had a (likely) pathogenic variant. In one patient, we identified a 12.7\u00a0Mb deletion in chromosome 6, encompassing TENT5A. The findings indicate a strong relationship between AFFs and monogenic bone disorders, particularly osteogenesis imperfecta and hypophosphatasia, but mainly in individuals with symptoms of these disorders. The high yield of (likely) pathogenic variants in AFF patients with a clinical suspicion of these disorders stresses the importance of careful clinical evaluation of AFF patients. Although the relevance of bisphosphonate use in this relationship is currently unclear, clinicians should consider these findings in medical management of these patients. \u00a9 2023 The Authors. Journal of Bone and Mineral Research published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research (ASBMR).<\/jats:p>","DOI":"10.1002\/jbmr.4801","type":"journal-article","created":{"date-parts":[[2023,4,20]],"date-time":"2023-04-20T00:19:41Z","timestamp":1681949981000},"page":"896-906","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Prevalence of Monogenic Bone Disorders in a Dutch Cohort of Atypical Femur Fracture Patients"],"prefix":"10.1093","volume":"38","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6748-6303","authenticated-orcid":false,"given":"Wei","family":"Zhou","sequence":"first","affiliation":[{"name":"Department of Internal Medicine Erasmus MC Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeroen GJ","family":"van Rooij","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine Erasmus MC Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7701-6663","authenticated-orcid":false,"given":"Denise M","family":"van de Laarschot","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine Erasmus MC Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zografia","family":"Zervou","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine Erasmus MC Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hennie","family":"Bruggenwirth","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus MC Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5035-127X","authenticated-orcid":false,"given":"Natasha M","family":"Appelman-Dijkstra","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Division of Endocrinology Leiden University Medical Center Leiden The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2921-3742","authenticated-orcid":false,"given":"Peter R","family":"Ebeling","sequence":"additional","affiliation":[{"name":"Department of Medicine School of Clinical Sciences, Monash University Clayton Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serwet","family":"Demirdas","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus MC Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7523-3656","authenticated-orcid":false,"given":"Annemieke JMH","family":"Verkerk","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine Erasmus MC Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9186-3423","authenticated-orcid":false,"given":"M Carola","family":"Zillikens","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine Erasmus MC Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,4,19]]},"reference":[{"key":"2024012714113006800_jbmr4801-bib-0001","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1016\/j.bone.2016.05.013","article-title":"Clinical effectiveness of bisphosphonates for the prevention of fragility fractures: a systematic review and network meta-analysis","volume":"89","author":"Sanderson","year":"2016","journal-title":"Bone."},{"issue":"3","key":"2024012714113006800_jbmr4801-bib-0002","doi-asserted-by":"crossref","first-page":"1294","DOI":"10.1210\/jc.2004-0952","article-title":"Severely suppressed bone turnover: a potential 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