title: A homozygous deletion of exon 1 in WISP3 causes progressive pseudorheumatoid dysplasia in two siblings.
abstract: Progressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive disease that causes progressive joint stiffness and pain. It is associated with loss-of-function mutations in the WISP3 gene. We describe two sisters suffering from PPD in whom molecular genetic analysis revealed a homozygous deletion of exon 1 and of the 5'UTR of the WISP3 gene. This is the first time that a gross deletion has been described as the causal mutation in PPD.
authors.affiliation: Skeletal Biology and Engineering Research Center, Department of Development and Regeneration, KU Leuven, Leuven, Belgium; Rheumatology, University Hospitals Leuven, Leuven, Belgium.
authors.forename: Barbara
authors.initials: B
authors.lastname: Neerinckx
authors.affiliation: Center for Human Genetics, University Hospitals Leuven , Leuven, Belgium.
authors.forename: Cedric
authors.initials: C
authors.lastname: Thues
authors.affiliation: Pediatric Rheumatology, University Hospitals Leuven , Leuven, Belgium.
authors.forename: Carine
authors.initials: C
authors.lastname: Wouters
authors.affiliation: CeGaT GmbH, Center for Genomics and Transcriptomics , Tübingen, Germany.
authors.forename: Sarah
authors.initials: S
authors.lastname: Lechner
authors.affiliation: Skeletal Biology and Engineering Research Center, Department of Development and Regeneration, KU Leuven, Leuven, Belgium; Rheumatology, University Hospitals Leuven, Leuven, Belgium.
authors.forename: Rene
authors.initials: R
authors.lastname: Westhovens
authors.affiliation: Center for Human Genetics, University Hospitals Leuven , Leuven, Belgium.
authors.forename: Hilde
authors.initials: H
authors.lastname: Van Esch