ArticlePediatric rheumatology online journal2023
A novel mutation in the proteoglycan 4 gene causing CACP syndrome: two sisters report.
Article in Pediatric rheumatology online journal, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 9 citations in OpenAlex.
- PRG4-Related Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome Mimicking Juvenile Idiopathic Arthritis: A Case-Based Review.International journal of molecular sciences · 2026Article
- From Misdiagnosis to Genetic Confirmation: A Brazilian Familial Report of Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome-A Case-Based Review.Case reports in pediatrics · 2026Article
- Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome Caused by Truncating Mutations in theMolecular syndromology · 2025Article
- Camptodactyly: From Embryological Basis to Surgical Treatment.Medicina (Kaunas, Lithuania) · 2023Article
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCamptodactyly-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.
conclusionOur report expands the knowledge of PRG4 mutations, which will aid in CACP patient counseling.
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