A novel mutation in the proteoglycan 4 gene causing CACP syndrome: two sisters report

• Published in: Pediatric rheumatology online journal Vol. 21; no. 1; p. 8
• Main Authors: Bağrul, İlknur, Ceylaner, Serdar, Yildiz, Yasemin Tasci, Tuncez, Serife, Aydin, Elif Arslanoglu, Bağlan, Esra, Ozdel, Semanur, Bülbül, Mehmet
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 24-01-2023; BioMed Central; BMC
• Subjects: Arthritis; Arthritis, Juvenile - genetics; Arthropathy; Camptodactyly; Case Report; Contracture - genetics; Coxa vara; Coxa Vara - diagnostic imaging; Coxa Vara - genetics; Female; Genes; Genetic aspects; Humans; Joint Diseases - genetics; Mutation - genetics; PRG4 mutation; Proteoglycans - genetics; Siblings; Azerbaijan; Arthropathy; Coxa vara; PRG4 mutation; Camptodactyly
• ISSN: 1546-0096; 1546-0096
• DOI: 10.1186/s12969-023-00793-z

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.
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.
Our report expands the knowledge of PRG4 mutations, which will aid in CACP patient counseling.