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Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/227074
Assessing the contribution of genes involved in monogenic bone disorders to the etiology of atypical femoral fractures
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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.
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GARCIA GIRALT, Natàlia, et al. Assessing the contribution of genes involved in monogenic bone disorders to the etiology of atypical femoral fractures. Human Genomics. 2024. Vol. 18, num. 1. ISSN 1473-9542. [consulted: 27 of May of 2026]. Available at: https://hdl.handle.net/2445/227074