Sailani M Reza, Chappell James, Jingga Inlora, Narasimha Anil, Zia Amin, Lynch Janet Linnea, Mazrouei Safoura, Bernstein Jonathan A, Aryani Omid, Snyder Michael P
Department of Genetics, Stanford University, Stanford, California 94304, USA.
Clinic of Internal Medicine, Department of Cardiology, University Heart Center, Jena University Hospital, 07747 Jena, Germany.
Cold Spring Harb Mol Case Stud. 2018 Feb 1;4(1). doi: 10.1101/mcs.a001990. Print 2018 Feb.
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.
进行性假类风湿性发育不良（PPD）是一种骨骼发育不良，其特征是关节软骨主要受累并伴有进行性关节僵硬。在此，我们报告了一个近亲家族的遗传特征，该家族中分离出一种未明确特征的骨骼发育不良形式。对四名患病兄弟姐妹及其父母进行全外显子组测序，在该基因中鉴定出一个功能丧失的纯合突变，从而确诊了患病个体的PPD。所鉴定的变异（Chr6: 112382301；WISP3:c.156C>A p.Cys52*）很罕见，预计会导致该蛋白质过早终止。
