WISP3 mutation associated with pseudorheumatoid dysplasia

Author:

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

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.

Publisher

Cold Spring Harbor Laboratory

Subject

General Medicine

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