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

doi:10.1038/ejhg.2013.123

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

Istituto "Giannina Gaslini"

Research output: Contribution to journal › Article › peer-review

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 language	English
Pages (from-to)	197-201
Number of pages	5
Journal	European Journal of Human Genetics
Volume	22
Issue number	2
DOIs	https://doi.org/10.1038/ejhg.2013.123
Publication status	Published - 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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10.1038/ejhg.2013.123

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

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.",

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doi = "10.1038/ejhg.2013.123",

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AU - Mannurita, Sara Ciullini

AU - Vignoli, Marina

AU - Bianchi, Lucia

AU - Kondi, Anuela

AU - Gerloni, Valeria

AU - Breda, Luciana

AU - Ten Cate, Rebecca

AU - Alessio, Maria

AU - Ravelli, Angelo

AU - Falcini, Fernanda

AU - Gambineri, Eleonora

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

Abstract

Keywords

ASJC Scopus subject areas

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