Prevalence of Monogenic Bone Disorders in a Dutch Cohort of Atypical Femur Fracture Patients
Authors' conclusion
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.
Study context
- Population
- Dutch patients with atypical femur fractures (AFFs) from two specialist bone centers; 95% had received bisphosphonatesincl
- Participants
- 60 patients
- Outcome
- Prevalence of monogenic bone disorders in a Dutch AFF cohort
Methodological detailstwo specialist bone centers, whole-exome sequencing of 37 candidate genes, ACMG classification, DNA array CNV analysis
- Two specialist bone centers
- Whole-exome sequencing of 37 candidate genes
- ACMG classification
- DNA array CNV analysis
Main finding
As reported in the abstract
Prevalence of monogenic bone disorders
- Clinical features of monogenic bone disorders
- 15 (25%)
- (Likely) pathogenic variant (PLS3, COL1A2, LRP5 or ALPL) among those with clinical features, incl. the pair of siblings
- 8 (54%)
- Likely pathogenic TCIRG1 variant among patients not suspected of monogenic bone disorders
- 1 (2%)
- (Likely) pathogenic variant in total
- 9 (15%)
- 12.7 Mb deletion in chromosome 6 encompassing TENT5A
- 1 patient
Observational data: associations, not effects.
Original publication
Prevalence of Monogenic Bone Disorders in a Dutch Cohort of Atypical Femur Fracture Patients. J Bone Miner Res. Published 19 April 2023. doi:10.
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