1. A novel mutation in the proteoglycan 4 gene causing CACP syndrome: two sisters report.
- Author
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Bağrul, İlknur, Ceylaner, Serdar, Yildiz, Yasemin Tasci, Tuncez, Serife, Aydin, Elif Arslanoglu, Bağlan, Esra, Ozdel, Semanur, and Bülbül, Mehmet
- Subjects
JUVENILE idiopathic arthritis ,PERICARDIAL effusion ,PERICARDITIS ,GENETIC mutation ,SYNDROMES ,SISTERS ,GENES - 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. [ABSTRACT FROM AUTHOR]
- Published
- 2023
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