Case Report: A Novel Homozygous Variant of the CTSK Gene in Rare Pycnodysostosis
Pycnodysostosis (PD) is a rare autosomal recessive skeletal dysplasia from impaired bone resorption due to osteoclastic dysfunction. The features of PD are deformity of the skull, maxilla, and phalanges; osteosclerosis; and bone fragility. We describe the case of a patient with complaints of multiple fractures of the lower extremities in the anamnesis and pain in the lower extremities, cervical spine, and shoulder girdle during physical exertion. Genetic testing revealed a novel homozygous variant c.704T>C (p.Leu235Pro) in the <i>CTSK</i> gene. Biallelic pathogenic variants in this gene lead to PD. Thus, the diagnosis in the patient was established by finding a novel likely pathogenic variant in the <i>CTSK</i> gene.
Authors
- G. N. Seitova (ORCID: https://orcid.org/0000-0002-8421-1416)
- И. Ж. Жалсанова (ORCID: https://orcid.org/0000-0001-6848-7749)
- A. A. Agafonova (ORCID: https://orcid.org/0000-0003-0169-2072)
- Н. А. Колесников (ORCID: https://orcid.org/0000-0001-8855-577X)
- Ekaterina Georgievna Ravzhaeva (ORCID: https://orcid.org/0000-0002-9516-7262)
- Nikolay Alekseevich Skryabin (ORCID: https://orcid.org/0000-0002-2491-3141)
- Elizaveta A. Fonova (ORCID: https://orcid.org/0000-0002-1338-5451)
- N. R. Valiakhmetov (ORCID: https://orcid.org/0000-0001-7969-7020)
- В. А. Степанов (ORCID: https://orcid.org/0000-0002-5166-331X)
- Sofia N. Gosudarkina (ORCID: https://orcid.org/0009-0009-6823-9441)
Institutions
- Tomsk National Research Medical Center (RU)
Publication Details
- Journal
- International Journal of Molecular Sciences
- Published
- 2024-12-04
- DOI
- https://doi.org/10.3390/ijms252313025
- Primary Topic
- Bone Metabolism and Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00