Genotype-phenotype investigation of 35 patients from 11 unrelated families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome


Yilmaz S., Alkaya D. U., Kasapcopur O., Barut K., Akdemir E. S., Celen C., ...More

MOLECULAR GENETICS & GENOMIC MEDICINE, vol.6, no.2, pp.230-248, 2018 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 6 Issue: 2
  • Publication Date: 2018
  • Doi Number: 10.1002/mgg3.364
  • Journal Name: MOLECULAR GENETICS & GENOMIC MEDICINE
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.230-248
  • Istanbul University Affiliated: Yes

Abstract

BackgroundThe camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is a rare autosomal recessive condition characterized by camptodactyly, noninflammatory arthropathy, coxa vara, and pericarditis. CACP is caused by mutations in the proteoglycan 4 (PRG4) gene, which encodes a lubricating glycoprotein present in the synovial fluid and at the surface of articular cartilage.