WISP3 mutation associated with pseudorheumatoid dysplasia.

Abstract

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.

• Authors: M Reza Sailani, James Chappell, Inlora Jingga, Anil Narasimha, Amin Zia, Janet Linnea Lynch, Safoura Mazrouei, Jonathan A Bernstein, Omid Aryani, Michael P Snyder
• Journal: Cold Spring Harbor molecular case studies (Cold Spring Harb Mol Case Stud) Vol. 4 Issue 1 (02 2018) ISSN: 2373-2873 [Electronic] United States
• PMID: 29092958 (Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)
• Copyright: © 2018 Sailani et al.; Published by Cold Spring Harbor Laboratory Press.

Chemical References

• CCN Intercellular Signaling Proteins
• CCN6 protein, human

Topics

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