Assessing the contribution of genes involved in monogenic bone disorders to the etiology of atypical femoral fractures.
Hum Genomics
; 18(1): 87, 2024 Aug 15.
Article
em En
| MEDLINE
| ID: mdl-39148098
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.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fraturas do Fêmur
/
Proteína-5 Relacionada a Receptor de Lipoproteína de Baixa Densidade
/
Proteína-6 Relacionada a Receptor de Lipoproteína de Baixa Densidade
/
Sequenciamento do Exoma
Limite:
Aged
/
Female
/
Humans
/
Middle aged
Idioma:
En
Revista:
Hum Genomics
/
Hum. genomics (Online)
/
Human genomics (Online)
Assunto da revista:
GENETICA
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Espanha