Camptodactyly arthropathy coxa vara pericarditis syndrome in two siblings
Journal Title: Perspectives In Medical Research - Year 2016, Vol 4, Issue 3
Abstract
Introduction: Camptodactyly-Arthropathy-Coxa vara-Pericarditis (CACP) syndrome is a rare autosomal recessive disorder caused by mutations in PRG4 gene that encodes for proteoglycan 4, a mucin-like glycoprotein that is the major lubricant for joints and tendon surfaces. Till date only 15 disease causing mutation in PRG4 gene has been listed in the human genome mutation database. This disease causing mutation has been predicted to prematurely truncate the protein produced. We report here 2 children of the same family getting affected by multiple effusions of the large joints with deformities.
Authors and Affiliations
Vishal Ashokraj Pushkarna
Keywords
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