Experience of using whole genome sequencing for diagnostics of X-linked hypophosphatemic rickets on the example of two cases
A. A. Buianova,
A. V. Rozhkova,
O. P. Parshina,
A. A. Kudakaeva,
E. V. Vasilyev,
I. S. Dantsev,
E. A. Nikolaeva https://doi.org/10.21508/1027-4065-2025-70-6-95-103
Abstract
X-linked dominant hypophosphatemic rickets is the most common inherited form of hypophosphatemic rickets, characterized by renal dysfunction, skeletal deformities, and other multi-organ complications. In Russia, since 2022, the first targeted therapy has been approved for clinical use — Burosumab, a monoclonal antibody directed against fibroblast growth factor 23. Initiation of treatment requires confirmation of the diagnosis through molecular genetic testing. This study presents two clinical case reports of patients with X-linked dominant hypophosphatemic rickets. The clinical diagnosis was established at the ages of 7 and 12 years based on a characteristic biochemical profile and radiographic findings. However, causative variants in the PHEX gene (c.2147+1197A>G and chrX:22030553_22033026del) were identified only after whole-genome sequencing, followed by detailed analysis of next-generation sequencing data.
About the Authors
A. A. Buianova
Veltischev Research and Clinical Institute for pediatrics and pediatric surgery at the Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
125412, Moscow
A. V. Rozhkova
Veltischev Research and Clinical Institute for pediatrics and pediatric surgery at the Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
125412, Moscow
O. P. Parshina
Veltischev Research and Clinical Institute for pediatrics and pediatric surgery at the Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
125412, Moscow
A. A. Kudakaeva
Veltischev Research and Clinical Institute for pediatrics and pediatric surgery at the Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
125412, Moscow
E. V. Vasilyev
Veltischev Research and Clinical Institute for pediatrics and pediatric surgery at the Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
125412, Moscow
I. S. Dantsev
Veltischev Research and Clinical Institute for pediatrics and pediatric surgery at the Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
125412, Moscow
E. A. Nikolaeva
Veltischev Research and Clinical Institute for pediatrics and pediatric surgery at the Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
125412, Moscow
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Review
For citations:
Buianova A.A., Rozhkova A.V., Parshina O.P., Kudakaeva A.A., Vasilyev E.V., Dantsev I.S., Nikolaeva E.A. Experience of using whole genome sequencing for diagnostics of X-linked hypophosphatemic rickets on the example of two cases. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2025;70(6):95-103. (In Russ.) https://doi.org/10.21508/1027-4065-2025-70-6-95-103
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