WISP3 mutation associated with pseudorheumatoid dysplasia

Cold Spring Harb Mol Case Stud. 2018 Feb 1;4(1):a001990. doi: 10.1101/mcs.a001990. Print 2018 Feb.


Progressive pseudorheumatoid dysplasia (PPD) is a skeletal dysplasia characterized by predominant involvement of articular cartilage with progressive joint stiffness. Here we report genetic characterization of a consanguineous family segregating an uncharacterized from of skeletal dysplasia. Whole-exome sequencing of four affected siblings and their parents identified a loss-of-function homozygous mutation in the WISP3 gene, leading to diagnosis of PPD in the affected individuals. The identified variant (Chr6: 112382301; WISP3:c.156C>A p.Cys52*) is rare and predicted to cause premature termination of the WISP3 protein.

Keywords: multiple skeletal anomalies; spondyloepimetaphyseal dysplasia.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • CCN Intercellular Signaling Proteins / genetics*
  • Child
  • Child, Preschool
  • Exome Sequencing
  • Female
  • Genetic Association Studies*
  • Genetic Predisposition to Disease*
  • Humans
  • Joint Diseases / genetics*
  • Male
  • Mutation / genetics*
  • Pedigree
  • Phenotype


  • CCN Intercellular Signaling Proteins
  • CCN6 protein, human