Assessing the contribution of genes involved in monogenic bone disorders to the etiology of atypical femoral fractures

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  • dc.contributor.author Garcia Giralt, Natàlia
  • dc.contributor.author Ovejero Crespo, Diana
  • dc.contributor.author Grinberg, Daniel
  • dc.contributor.author Nogués Solan, Francesc Xavier
  • dc.contributor.author Castañeda, Santos
  • dc.contributor.author Balcells, Susana
  • dc.contributor.author Rabionet, Raquel
  • dc.date.accessioned 2025-06-02T06:22:57Z
  • dc.date.available 2025-06-02T06:22:57Z
  • dc.date.issued 2024
  • dc.description.abstract Background: Recent studies suggested that genetic variants associated with monogenic bone disorders were involved in the pathogenesis of atypical femoral fractures (AFF). Here, we aim to identify rare genetic variants by whole exome sequencing in genes involved in monogenic rare skeletal diseases in 12 women with AFF and 4 controls without any fracture. Results: Out of 33 genetic variants identified in women with AFF, eleven (33.3%) were found in genes belonging to the Wnt pathway (LRP5, LRP6, DAAM2, WNT1, and WNT3A). One of them was rated as pathogenic (p.Pro582His in DAAM2), while all others were rated as variants of uncertain significance according to ClinVar and ACMG criteria. Conclusions: Osteoporosis, rare bone diseases, and AFFs may share the same genes, thus making it even more difficult to identify unique risk factors.
  • dc.description.sponsorship This research was funded by Centro de Investigación Biomédica en Red de Fragilidad y Envejecimiento Saludable (grant number CB16/10/00245); Fundación Española de Investigación Ósea y del Metabolismo Mineral (FEIOMM); Fondo de Investigación en Salud (grant number PI19/00033) from Instituto de Salud Carlos III (ISCIII) and European Union Fund. The research was also supported by MCIN/AEI/https://doi.org/10.13039/501100011033, Project PID2019-107188RB-C21, and AGAUR. DO is recipient of a Miquel Servet grant from ISCIII.
  • dc.format.mimetype application/pdf
  • dc.identifier.citation Garcia-Giralt N, Ovejero D, Grinberg D, Nogues X, Castañeda S, Balcells S, et al. Assessing the contribution of genes involved in monogenic bone disorders to the etiology of atypical femoral fractures. Hum Genomics. 2024 Aug 15;18(1):87. DOI: 10.1186/s40246-024-00652-2
  • dc.identifier.doi http://dx.doi.org/10.1186/s40246-024-00652-2
  • dc.identifier.issn 1473-9542
  • dc.identifier.uri http://hdl.handle.net/10230/70585
  • dc.language.iso eng
  • dc.publisher BioMed Central
  • dc.relation.ispartof Hum Genomics. 2024 Aug 15;18(1):87
  • dc.relation.projectID info:eu-repo/grantAgreement/ES/2PE/PID2019-107188RB-C21
  • dc.rights © The Author(s) 2024. Open Access This article is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License, which permits any non-commercial use, sharing, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if you modified the licensed material. You do not have permission under this licence to share adapted material derived from this article or parts of it. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by-nc-nd/4.0/.
  • dc.rights.accessRights info:eu-repo/semantics/openAccess
  • dc.rights.uri http://creativecommons.org/licenses/by-nc-nd/4.0/
  • dc.subject.keyword AFF
  • dc.subject.keyword Atypical femoral fracture
  • dc.subject.keyword Monogenic bone disorder
  • dc.subject.keyword WES
  • dc.title Assessing the contribution of genes involved in monogenic bone disorders to the etiology of atypical femoral fractures
  • dc.type info:eu-repo/semantics/article
  • dc.type.version info:eu-repo/semantics/publishedVersion

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