Osteoporosis related to WNT1 variants: a not infrequent cause of osteoporosis
Authors' conclusion
Nearly 1/10 adult subjects with severe idiopathic osteoporosis may present pathogenic WNT1 mutations.
Study context
- Population
- Subjects aged 19–60 years with severe, early-onset osteoporosis
- Participants
- 56 subjects
- Outcome
- Presence and prevalence of WNT1 mutations and main associated clinical characteristics
Methodological detailsmassive parallel sequencing with a 23-gene panel
- Massive parallel sequencing with a 23-gene panel
Main finding
As reported in the abstract
Heterozygous WNT1 variants
Patients with heterozygous WNT1 variants (3 men)
5
Developed pseudoarthrosis after upper arm fractures
2
Previously treated with bisphosphonates, with inadequate response
1
Observational data: associations, not effects.
Original publication
Osteoporosis related to WNT1 variants: a not infrequent cause of osteoporosis. Osteoporos Int. Published 18 November 2022. doi:10.
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