Carregant...
Fitxers
Tipus de document
ArticleVersió
Versió publicadaData de publicació
Llicència de publicació
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
Títol de la revista
Director/Tutor
ISSN de la revista
Títol del volum
Recurs relacionat
Resum
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.
Matèries
Matèries (anglès)
Citació
Citació
GARCIA GIRALT, Natàlia, OVEJERO, Diana, GRINBERG VAISMAN, Daniel raúl, NOGUÉS SOLÁN, Xavier, CASTAÑEDA, Santos, BALCELLS COMAS, Susana, RABIONET JANSSEN, Raquel. Assessing the contribution of genes involved in monogenic bone disorders to the etiology of atypical femoral fractures. _Human Genomics_. 2024. Vol. 18, núm. 1. [consulta: 22 de febrer de 2026]. ISSN: 1473-9542. [Disponible a: https://hdl.handle.net/2445/227074]