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

Yilmaz, Saliha; Alkaya, DİLEK; Kasapcopur, ÖZGÜR; Barut, KENAN; Akdemir, Ekin; Celen, Cemre; Youngblood, Mark; Yasuno, Katsuhito; Bilguvar, Kaya; Gunel, Murat; Tuysuz, BEYHAN

doi:10.1002/mgg3.364

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

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)

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.