CACP syndrome: Identification of five novel mutations and of the first case of UPD in the largest European cohort

Sara Ciullini Mannurita, Marina Vignoli, Lucia Bianchi, Anuela Kondi, Valeria Gerloni, Luciana Breda, Rebecca Ten Cate, Maria Alessio, Angelo Ravelli, Fernanda Falcini, Eleonora Gambineri

Research output: Contribution to journalArticle

Abstract

Camptodactyly-Arthropathy-Coxa vara-Pericarditis (CACP) syndrome is a rare autosomal recessive disorder caused by mutations in PRG4 gene that encodes for proteoglycan 4, a mucin-like glycoprotein that is the major lubricant for joints and tendon surfaces. The molecular studies reported so far have described the identification of 15 mutations associated with this syndrome and the majority of them were found in families of Arabian origin. Here we report the molecular investigation of the largest European cohort that comprises 13 patients, and allowed the identification of 5 novel mutations and of the first case of CACP syndrome resulting from uniparental disomy of chromosome 1.

Original languageEnglish
Pages (from-to)197-201
Number of pages5
JournalEuropean Journal of Human Genetics
Volume22
Issue number2
DOIs
Publication statusPublished - Feb 2014

Keywords

  • Camptodactyly-Arthropathy-Coxa vara-Pericarditis syndrome
  • PRG4 gene
  • UPD

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Medicine(all)

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    Mannurita, S. C., Vignoli, M., Bianchi, L., Kondi, A., Gerloni, V., Breda, L., Ten Cate, R., Alessio, M., Ravelli, A., Falcini, F., & Gambineri, E. (2014). CACP syndrome: Identification of five novel mutations and of the first case of UPD in the largest European cohort. European Journal of Human Genetics, 22(2), 197-201. https://doi.org/10.1038/ejhg.2013.123