CACP, encoding a secreted proteoglycan, is mutated in camptodactyly- arthropathy-coxa vara-pericarditis syndrome

Jose Marcelino, John D. Carpten, Wafaa M. Suwairi, Orlando M. Gutierrez, Stuart Schwartz, Christiane Robbins, Raman Sood, Izabela Makalowska, Andy Baxevanis, Brian Johnstone, Ronald M. Laxer, Lawrence Zemel, Chong Ae Kim, J. Kenneth Herd, Johannes Ihle, Cal Williams, Mark Johnson, Vidya Raman, Luís Garcia Alonso, Decio BrunoniAmy Gerstein, Nickolas Papadopoulos, Sultan A. Bahabri, Jeffrey M. Trent, Matthew L. Warman

Research output: Contribution to journalArticlepeer-review

252 Scopus citations


Altered growth and function of synoviocytes, the intimal cells which line joint cavities and tendon sheaths, occur in a number of skeletal diseases. Hyperplasia of synoviocytes is found in both rheumatoid arthritis and osteoarthritis, despite differences in the underlying aetiologies of the two disorders. We have studied the autosomal recessive disorder camptodactylyarthropathy-coxa vara-pericarditis syndrome (CACP; MIM 208250) to identify biological pathways that lead to synoviocyte hyperplasia, the principal pathological feature of this syndrome. Using a positional-candidate approach, we identified mutations in a gene (CACP) encoding a secreted proteoglycan as the cause of CACP. The CACP protein, which has previously been identified as both megakaryocyte stimulating factor precursor' and 'superficial zone protein', contains domains that have homology to somatomedin B, heparin-binding proteins, mucins and haemopexins. In addition to expression in joint synovium and cartilage, CACP is expressed in non- skeletal tissues including liver and pericardium. The similarity of CACP sequence to that of other protein families and the expression of CACP in non- skeletal tissues suggest it may have diverse biological activities.

Original languageEnglish
Pages (from-to)319-322
Number of pages4
JournalNature Genetics
Issue number3
StatePublished - Nov 1999


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