A novel mutation in the proteoglycan 4 gene causing CACP syndrome: two sisters report.
Pediatr Rheumatol Online J
; 21(1): 8, 2023 Jan 24.
Article
em En
| MEDLINE
| ID: mdl-36694203
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.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Artrite Juvenil
/
Proteoglicanas
/
Contratura
/
Coxa Vara
/
Artropatias
Limite:
Female
/
Humans
Idioma:
En
Ano de publicação:
2023
Tipo de documento:
Article