WISP3 mutation associated with pseudorheumatoid dysplasia.

M Reza Sailani, James Chappell, Inlora Jingga, Anil Narasimha, Amin Zia, Janet Linnea Lynch, Safoura Mazrouei, Jonathan A Bernstein, Omid Aryani, Michael P Snyder

Cold Spring Harbor molecular case studies 2018 Feb

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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. © 2018 Sailani et al.; Published by Cold Spring Harbor Laboratory Press.

Citation

M Reza Sailani, James Chappell, Inlora Jingga, Anil Narasimha, Amin Zia, Janet Linnea Lynch, Safoura Mazrouei, Jonathan A Bernstein, Omid Aryani, Michael P Snyder. WISP3 mutation associated with pseudorheumatoid dysplasia. Cold Spring Harbor molecular case studies. 2018 Feb;4(1)