Year: 2024
Type: article
Study design: Case Report
Abstract: 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 CTSK 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 CTSK gene.
Authors: Irina Zhargalovna Zhalsanova, Elizaveta Alekseevna Fonova, Nail Raushanovich Valiakhmetov, Nikita Aleksandrovich Kolesnikov, Sofia Nikolaevna Gosudarkina, Anna Aleksandrovna Agafonova, Ekaterina Georgievna Ravzhaeva, Gulnara Narimanovna Seitova, Vadim Anatolyevich Stepanov, Nikolay Alekseevich Skryabin
Language: English
Topic: Bone Metabolism and Diseases
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $3,296
OpenAlex ID: W4405005092