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

Creative Commons License

Yilmaz S., Alkaya D., Kasapcopur O., Barut K., Akdemir E. S., Celen C., ...Daha Fazla

Molecular Genetics and Genomic Medicine, cilt.6, sa.2, ss.230-248, 2018 (SCI-Expanded, Scopus) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 6 Sayı: 2
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1002/mgg3.364
  • Dergi Adı: Molecular Genetics and Genomic Medicine
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.230-248
  • Anahtar Kelimeler: camptodactyly-arthropathy-coxa vara-pericarditis, genotype-phenotype correlation, lubricin, NGS, noninflammatory arthropathy, nonsense-mediated mRNA decay, PRG4, MESSENGER-RNA DECAY, CONGENITAL CENTRAL HYPOVENTILATION, BOUNDARY LUBRICATION, PRG4 GENE, MUTATIONS, LUBRICIN, CARTILAGE, VIEW
  • Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
  • İstanbul Üniversitesi-Cerrahpaşa Adresli: Evet

Özet

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.