AI Article Synopsis
- Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome is linked to mutations in the PRG4 gene and presents symptoms similar to juvenile idiopathic arthritis.
- Two siblings initially diagnosed with juvenile idiopathic arthritis were later found to have CACP syndrome due to a novel mutation in the PRG4 gene.
- This case adds to the understanding of PRG4 mutations and can improve counseling for patients with CACP syndrome.
Article Abstract
Background: Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome, caused by biallelic pathogenic mutations in the proteoglycan 4 (PRG4) gene, is characterized by early-onset camptodactyly, noninflammatory arthropathy, coxa vara deformity, and rarely, pericardial effusion. This syndrome can mimic juvenile idiopathic arthritis. CACP syndrome is caused by mutations in the proteoglycan 4 (PRG4) gene. To date, only 36 pathogenic mutations have been reported in this gene, but none have been reported from Azerbaijan.
Case Presentation: Herein, we report two siblings presented with chronic polyarthritis, had a prior diagnosis of juvenile idiopathic arthritis, but was subsequently diagnosed as CACP syndrome with novel mutation in the PRG4 gene.
Conclusion: Our report expands the knowledge of PRG4 mutations, which will aid in CACP patient counseling.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9875468 | PMC |
| http://dx.doi.org/10.1186/s12969-023-00793-z | DOI Listing |
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