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Sailani, M Reza; Chappell, James; Jingga, Inlora; Narasimha, Anil; Zia, Amin; Lynch, Janet Linnea; Mazrouei, Safoura; Bernstein, Jonathan A; Aryani, Omid; Snyder, Michael P
Cold Spring Harbor molecular case studies, 02/2018, Letnik: 4, Številka: 1Journal Article
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 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 protein.
