A novel WISP3 mutation in a Chinese patient with progressive pseudorheumatoid dysplasia

pubmed: wnt1 2023-06-01

QJM. 2023 Feb 9:hcad015. doi: 10.1093/qjmed/hcad015. Online ahead of print.


Progressive pseudorheumatoid (PPD) arthritis is a rare genetic disorder resulting from mutations in the Wnt-1 inducible signaling pathway protein-3 gene (WISP3 gene). The disease is characterized by non-inflammatory polyarthropathy, degeneration of joints, metaphyseal dysplasia of limbs and platyspondyly. Here, we report a Chinese PPD patient with a novel WISP3 mutation. A 24-year-old female was presented with 17-year history of polyarticular deformity. At the age of 9, she had decreased mobility in her wrists, elbows, ankles, and knees. After a series of tests including the next generation sequencing gene panel for the WISP3 gene were performed, the patient was finally diagnosed with progressive pseudorheumatoid dysplasia. This patient had a compound mutation in the exon. The c.868_869delAG has been reported as a rare mutation in Caucasian PPD and identified for the first time in Chinese patient. Thus, our study helps to further expand the WISP3 mutation spectrum in PPD patients. Further, our case provides a thorough description of clinical symptoms and the imaging characteristics. This case is also the first to describe the delineation of cartilage destruction and an absence of an inflammatory process of PPD on musculoskeletal ultrasound. The disease of PPD is easily misdiagnosed as rheumatoid arthritis, ankylosing spondylitis. Early detection of this entity, followed by confirmation via imaging and a genetic test, can save patients from unnecessary investigations and toxic medications.

PMID:36759945 | DOI:10.1093/qjmed/hcad015