Pediatric rheumatology online journal · 2023
A novel mutation in the proteoglycan 4 gene causing CACP syndrome: two sisters report.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Bağrul İlknur, Ceylaner Serdar, Yildiz Yasemin Tasci, Tuncez Serife, Aydin Elif Arslanoglu, Bağlan Esra, Ozdel Semanur, Bülbül Mehmet
Аннотация
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.
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.