High frequency of heterozygous rare variants of the SLC34A1 and SLC9A3R1 genes in patients with atypical femur fracture
Authors' conclusion
Our findings suggest that rarevariants of SLC34A1 and SLC9A3R1 could represent a possible genetic risk factor for the occurrence of AFFs. On the other hand, AFFs could represent an unsuspected clinical manifestation and/or an anti-resorption therapycorrelatedadverse event in patients with NPHLOP disorders.
Study context
- Population
- Unrelated patients who had developed at least one AFF
- Participants
- 25 unrelated patients
- Outcome
- Heterozygous rare variants
Methodological detailsnext-generation sequencing, customized panel of 76 mineralization genes
- Next-generation sequencing
- Customized panel of 76 mineralization genes
Main finding
As reported in the abstract
Heterozygous rare variants in SLC34A1 and SLC9A3R1 genes
32.0%
Heterozygous rare variants in BMPR1B, CYP27B1, FBN1, MEPE, PIGO and PHOSPHO1 genes, each in a single AFF case
4.0%
Original publication
High frequency of heterozygous rare variants of the SLC34A1 and SLC9A3R1 genes in patients with atypical femur fracture. Eur J Endocrinol. Published 13 January 2023. doi:10.
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