一种新型蛋白聚糖 4 基因突变导致 CACP 综合征：两姐妹报告。
A novel mutation in the proteoglycan 4 gene causing CACP syndrome: two sisters report.
机构信息
Department of Pediatric Rheumatology, Dr Sami Ulus Maternity and Child Health and Diseases Training and Research Hospital, Ankara, Turkey.
Department of Genetics, Intergen Genetics Centre, Ankara, Turkey.
出版信息
Pediatr Rheumatol Online J. 2023 Jan 24;21(1):8. doi: 10.1186/s12969-023-00793-z.
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.
背景
由蛋白聚糖 4（PRG4）基因的双等位致病性突变引起的挛缩-关节病-髋内翻-心包炎（CACP）综合征的特征是早发性爪形手、非炎症性关节炎、髋内翻畸形，且很少出现心包积液。这种综合征可能模仿青少年特发性关节炎。CACP 综合征是由蛋白聚糖 4（PRG4）基因突变引起的。迄今为止，该基因仅报道了 36 种致病性突变，但尚未在阿塞拜疆报道过。
病例介绍
本文报告了两例患有慢性多发性关节炎的同胞，他们之前被诊断为青少年特发性关节炎，但随后被诊断为 CACP 综合征，其 PRG4 基因有新的突变。
结论
我们的报告扩展了 PRG4 突变的知识，这将有助于 CACP 患者的咨询。
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