Akademik Veri Yönetim Sistemi
MOLECULAR SYNDROMOLOGY, 2024 (SCI-Expanded, Scopus)
Introduction:Camptodactyly-arthropathy-coxa vara-pericarditis(CACP) syndrome is an autosomal recessive condition charac-terized by early-onset camptodactyly, noninflammatory ar-thropathy, coxa vara deformity, and, rarely, pericardial effusion.The disease gene has been assigned to human chromo-some regions 1q25-q31, and truncating mutations havebeen identified in theproteoglycan-4(PRG4)geneformerlyknown as megakaryocyte stimulating factor gene.Methods:A literature review was performed with thefindings in patients in terms of CACP syndrome. Also,whole-exome sequencing was performed for all cases.Segregation analyses of the detected variants were per-formed according to the possibilities.Results:We present 3Turkish patients with CACP syndrome mimicking juvenileidiopathic arthritis (JIA). All patients were exposed to bi-ologic therapy due to recalcitrant JIA. We have detectedtwo pathogenic PRG4 variants. Case 3 had a novel path-ogenic PRG4 variant not reported for the CACP syndromeso far. These two variants cause premature truncation ofthe protein. A deletion was detected in case 1 in the ho-mozygous state in thePRG4gene (NM_005807.6:c.3848del, p.Gly1283GlufsTer6, chr1-186281360-G-). Apreviously described deletion was detected in case 2 andcase 3 in the homozygous state in thePRG4gene(NM_005807.6: c.1910_1911delCT, p.Pro637ArgfsTer9,chr1-186276761-CT).Conclusion:In the current study, wereport three pathogenic PRG4 variants including a novelmutation. We consider that a detailed anamnesis, includingkinship and meticulous physical examination of campto-dactyly in the absence of inflammatory response, mayreveal CACP syndrome masquerading as JIA. ThePRG4gene analysis presents the early diagnosis for patients andprenatal counseling and preimplantation genetic diagnosisfor carrier families.(c) 2024 S. Karger AG, Basel