WISP3 mutation associated with Pseudorheumatoid Dysplasia. Cold Spring Harbor molecular case studies Sailani, M. R., Chappell, J., Inlora, J., Lynch, L., Narasimha, A., Mazroui, S., Zia, A., Bernstein, J., Aryani, O., Snyder, M. P. 2017

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.

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