%0 Case Reports
%T A novel mutation in the proteoglycan 4 gene causing CACP syndrome: two sisters report.
%A Bağrul İ
%A Ceylaner S
%A Yildiz YT
%A Tuncez S
%A Aydin EA
%A Bağlan E
%A Ozdel S
%A Bülbül M
%J Pediatr Rheumatol Online J
%V 21
%N 1
%D Jan 2023 24
%M 36694203
%F 3.413
%R 10.1186/s12969-023-00793-z
%X <B>BACKGROUND: </B>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.<BR><B>METHODS: </B>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.<BR><B>CONCLUSIONS: </B>Our report expands the knowledge of PRG4 mutations, which will aid in CACP patient counseling.