Title: A homozygous deletion of exon 1 in WISP3 causes progressive pseudorheumatoid dysplasia in two siblings
Authors: Neerinckx, Barbara ×
Thues, Cedric
Wouters, Carine
Lechner, Sarah
Westhovens, Rene
Van Esch, Hilde #
Issue Date: 2015
Publisher: Nature Publishing Group
Series Title: Human Genome Variation vol:2 pages:15049
Article number: 10.1038/hgv.2015.49
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.
ISSN: 2054-345X
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Skeletal Biology and Engineering Research Center (+)
Laboratory of Pediatric Immunology
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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