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.
authors.affiliation: Department of 'NEUROFARBA', Section of Child's Health, University of Florence and Anna Meyer Children's Hospital, Florence, Italy.
authors.forename: Sara
authors.initials: S
authors.lastname: Ciullini Mannurita
authors.affiliation: Department of 'NEUROFARBA', Section of Child's Health, University of Florence and Anna Meyer Children's Hospital, Florence, Italy.
authors.forename: Marina
authors.initials: M
authors.lastname: Vignoli
authors.affiliation: Unit of Hematology, Azienda Ospedaliero-Universitaria Careggi, Florence, Italy.
authors.forename: Lucia
authors.initials: L
authors.lastname: Bianchi
authors.affiliation: Pediatrics, Centro Ospedaliero-Universitario 'Madre Teresa', Tirana, Albania.
authors.forename: Anuela
authors.initials: A
authors.lastname: Kondi
authors.affiliation: Department of Rheumatology, Hospital G. Pini, Milan, Italy.
authors.forename: Valeria
authors.initials: V
authors.lastname: Gerloni
authors.affiliation: Department of Pediatrics, University of Chieti, Chieti, Italy.
authors.forename: Luciana
authors.initials: L
authors.lastname: Breda
authors.affiliation: Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands.
authors.forename: Rebecca
authors.initials: R
authors.lastname: Ten Cate
authors.affiliation: Department of Pediatrics, University Federico II of Naples, Naples, Italy.
authors.forename: Maria
authors.initials: M
authors.lastname: Alessio
authors.affiliation: Istituto Giannina Gaslini and University of Genoa, Genoa, Italy.
authors.forename: Angelo
authors.initials: A
authors.lastname: Ravelli
authors.affiliation: Department of Internal Medicine, Section of Rheumatology, Transition Clinic, University of Florence, Florence, Italy.
authors.forename: Fernanda
authors.initials: F
authors.lastname: Falcini
authors.affiliation: Department of 'NEUROFARBA', Section of Child's Health, University of Florence and Anna Meyer Children's Hospital, Florence, Italy.
authors.forename: Eleonora
authors.initials: E
authors.lastname: Gambineri
mesh_terms: D000293:Adolescent; D001177:Arthropathy, Neurogenic / Q000235:genetics*; D001483:Base Sequence; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D018389:Codon, Nonsense; D060905:Coxa Vara / Q000235:genetics*; D004252:DNA Mutational Analysis; D005060:Europe; D005260:Female; D056726:Genetic Association Studies; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D018895:Microsatellite Repeats; D011509:Proteoglycans / Q000235:genetics*; D017384:Sequence Deletion; D013585:Synovitis / Q000235:genetics*; D024182:Uniparental Disomy; D000099158:Proteoglycan 4
chemical_list: D018389:Codon, Nonsense; D011509:Proteoglycans; C419197:PRG4 protein, human; D000099158:Proteoglycan 4