Cold Spring Harb Mol Case Stud. 2018 Feb 1;4(1). pii: a001990. doi: 10.1101/mcs.a001990. Print 2018 Feb.

WISP3 mutation associated with pseudorheumatoid dysplasia.

Sailani MR¹, Chappell J¹, Jingga I¹, Narasimha A¹, Zia A¹, Lynch JL¹, Mazrouei S², Bernstein JA³, Aryani O^4,⁵, Snyder MP¹.

Author information

1: Department of Genetics, Stanford University, Stanford, California 94304, USA.
2: Clinic of Internal Medicine, Department of Cardiology, University Heart Center, Jena University Hospital, 07747 Jena, Germany.
3: Department of Pediatrics, Stanford University, Stanford, California 94304, USA.
4: Department of Neuroscience, Iran University of Medical Sciences, Tehran 1449614535, Iran.
5: Endocrinology and Metabolic Research Institute, Tehran University of Medical Sciences, Tehran 1599666615, Iran.

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.