WISP3 mutation associated with pseudorheumatoid dysplasia.

Autor:	Sailani MR; Department of Genetics, Stanford University, Stanford, California 94304, USA., Chappell J; Department of Genetics, Stanford University, Stanford, California 94304, USA., Jingga I; Department of Genetics, Stanford University, Stanford, California 94304, USA., Narasimha A; Department of Genetics, Stanford University, Stanford, California 94304, USA., Zia A; Department of Genetics, Stanford University, Stanford, California 94304, USA., Lynch JL; Department of Genetics, Stanford University, Stanford, California 94304, USA., Mazrouei S; Clinic of Internal Medicine, Department of Cardiology, University Heart Center, Jena University Hospital, 07747 Jena, Germany., Bernstein JA; Department of Pediatrics, Stanford University, Stanford, California 94304, USA., Aryani O; Department of Neuroscience, Iran University of Medical Sciences, Tehran 1449614535, Iran.; Endocrinology and Metabolic Research Institute, Tehran University of Medical Sciences, Tehran 1599666615, Iran., Snyder MP; Department of Genetics, Stanford University, Stanford, California 94304, USA.
Jazyk:	angličtina
Zdroj:	Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2018 Feb 01; Vol. 4 (1). Date of Electronic Publication: 2018 Feb 01 (Print Publication: 2018).
DOI:	10.1101/mcs.a001990
Abstrakt:	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.)
Databáze:	MEDLINE
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