Clinical and Molecular Genetic Characteristics of Patients with Hereditary Hypophosphatemia
Authors' conclusion
The application of MLPA provided an additional explanatory value of 10% to the molecular etiology. However, 10% of the cases of HH still remain unexplained even after a comprehensive genetic work-up. Biochemical findings suggest distinct biochemical profiles between FGF23-dependent and FGF23-independent HH groups.
Study context
- Population
- Patients with hereditary hypophosphatemia (HH) from 39 unrelated families; PHEX sequencing, MLPA for PHEX and gene panel testing39 unrelated families
- Participants
- 50 patients
- Comparison
- FGF23-dependent vs FGF23-independent HH
- FGF23-dependentn = 28
- FGF23-independentn = 15reference
- Outcome
- Genetic causes of HH
Performance
As reported in the abstract
Genetic etiology of HH
- Genetic etiology revealed
- 43 patients from 33 families
- PHEX gene variants (4 novel)
- 24 patients from 19 unrelated families (50%)
- SLC34A3 (second most common)
- 16.6%
- DMP1
- n = 3
- SLC34A1
- n = 2
- CLCN5
- n = 2
- OCRL
- n = 2
- FAM20C
- n = 1
- SLC2A2
- n = 1
Further findings
Clinical and biochemical features, FGF23-dependent vs FGF23-independent
- Lower phosphate and TmP/GFR SDSs, higher ALP SDS and more severe clinical rickets in FGF23-dependent
- Higher serum and urine calcium and lower PTH levels in FGF23-independent
Original publication
Clinical and Molecular Genetic Characteristics of Patients with Hereditary Hypophosphatemia. J Clin Endocrinol Metab. Published 19 December 2024. doi:10.
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