Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome: The First Familial Case in China and Novel Mutations of the Proteoglycan 4 Gene

REFERENCES

1. 1.↵
   1. Albuhairan I,
   2. Al-Mayouf SM

   . Camptodactyly-arthropathy-coxavara-pericarditis syndrome in Saudi Arabia: clinical and molecular genetic findings in 22 patients. Semin Arthritis Rheum 2013;43:292-6.

   OpenUrl
2. 2.
   1. Basit S,
   2. Iqbal Z,
   3. Umicevic-Mirkov M, et al.

   A novel deletion mutation in proteoglycan-4 underlies camptodactyly-arthropathy-coxa-vara-pericarditis syndrome in a consanguineous Pakistani family. Arch Med Res 2011;42:110-4.

   OpenUrlPubMed
3. 3.↵
   1. Yilmaz S,
   2. Uludağ Alkaya D,
   3. Kasapçopur Ö, et al.

   Genotype-phenotype investigation of 35 patients from 11 unrelated families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome. Mol Genet Genomic Med 2018;6:230-48.

   OpenUrl
4. 4.↵
   1. Bahabri SA,
   2. Suwairi WM,
   3. Laxer RM,
   4. Polinkovsky A,
   5. Dalaan AA,
   6. Warman ML

   . The camptodactyly-arthropathy-coxa vara-pericarditis syndrome: clinical features and genetic mapping to human chromosome 1. Arthritis Rheum 1998;41:730-5.

   OpenUrlCrossRefPubMed
5. 5.↵
   1. Marcelino J,
   2. Carpten JD,
   3. Suwairi WM, et al.

   CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome. Nat Genet 1999;23:319.

   OpenUrlCrossRefPubMed
6. 6.↵
   1. Jay GD,
   2. Britt DE,
   3. Cha CJ

   . Lubricin is a product of megakaryocyte stimulating factor gene expression by human synovial fibroblasts. J Rheumatol 2000;27:594-600.

   OpenUrlPubMed
7. 7.↵
   1. Rhee DK,
   2. Marcelino J,
   3. Baker M, et al.

   The secreted glycoprotein lubricin protects cartilage surfaces and inhibits synovial cell overgrowth. J Clin Invest 2011;115:622-31.

   OpenUrl
8. 8.↵
   1. Jahn S,
   2. Seror J,
   3. Klein J

   . Lubrication of articular cartilage. Annu Rev Biomed Eng 2016;18:235-58.

   OpenUrlCrossRefPubMed
9. 9.↵
   1. Akawi NA,
   2. Ali BR,
   3. Al-Gazali L

   . A novel mutation in PRG4 gene underlying camptodactyly-arthropathy-coxa vara-pericarditis syndrome with the possible expansion of the phenotype to include congenital cataract. Birth Defects Res A Clin Mol Teratol 2012;94:553-6.

   OpenUrlPubMed
10. 10.↵
    1. Kisla Ekinci RM,
    2. Balci S,
    3. Dogan H, et al.

    Camptodactyly-arthropathy-coxa vara-pericarditis syndrome resembling juvenile idiopathic arthritis: a single-center experience from southern Turkey. Mol Syndromol 2021;12:112-7.

    OpenUrl