Identification of Rare and Novel PHEX Variants in X-linked Hypophosphatemia
Authors' conclusion
Our research expands the mutation spectrum of PHEX and highlights the significance of using multiple genetic testing methods to diagnose XLH.
Study context
- Population
- 6 unrelated families with a clinical diagnosis of X-linked hypophosphatemia (XLH)6 unrelated families
- Outcome
- Identification of pathogenic PHEX variants
Methodological details6 unrelated families, multiple genetic testing assays, WES, MLPA, WGS, RT-PCR, Sanger sequencing and karyotyping
- 6 unrelated families
- Multiple genetic testing assays
- WES, MLPA, WGS, RT-PCR, Sanger sequencing and karyotyping
Main finding
As reported in the abstract
Novel pathogenic PHEX variants
- Novel pathogenic variants identified
- 6
- Mosaic variant (exon 16-22 deletion)
- 1
- Chromosomal abnormalities (46, XN, inv[X][pter→p22.11::q21.31→p22.11::q21.31 →qter], 46, XN, inv[X][p22.11p22.11], and XXY)
- 3
- Nonclassical intron variant (NM_000444.6, c.1701_31A > G)
- 1
- Deletion variant (NM_000444.6, c.64_5464-186 del5215)
- 1
Observational data: associations, not effects.
Original publication
Identification of Rare and Novel PHEX Variants in X-linked Hypophosphatemia. J Clin Endocrinol Metab. Published 9 May 2024. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →