Zhalsanova Irina Zhargalovna, Fonova Elizaveta Alekseevna, Valiakhmetov Nail Raushanovich, Kolesnikov Nikita Aleksandrovich, Gosudarkina Sofia Nikolaevna, Agafonova Anna Aleksandrovna, Ravzhaeva Ekaterina Georgievna, Seitova Gulnara Narimanovna, Stepanov Vadim Anatolyevich, Skryabin Nikolay Alekseevich
Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk 634050, Russia.
Int J Mol Sci. 2024 Dec 4;25(23):13025. doi: 10.3390/ijms252313025.
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 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 gene.
致密性成骨不全症（PD）是一种罕见的常染色体隐性遗传性骨骼发育不良疾病，由破骨细胞功能障碍导致骨吸收受损引起。PD的特征包括颅骨、上颌骨和指骨畸形；骨质硬化；以及骨脆性增加。我们描述了一例患者，其既往史有下肢多处骨折，体力活动时下肢、颈椎和肩胛带疼痛。基因检测发现该基因存在一个新的纯合变异c.704T>C（p.Leu235Pro）。该基因的双等位基因致病性变异会导致PD。因此，通过在该基因中发现一个新的可能致病性变异，确诊了该患者的病情。
