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WISP3 mutation associated with pseudorheumatoid dysplasia.

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.

SUBMITTER: Sailani MR

PROVIDER: S-EPMC5793776 | biostudies-literature | 2018 Feb

REPOSITORIES: biostudies-literature

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WISP3 mutation associated with pseudorheumatoid dysplasia.

Sailani M Reza MR Chappell James J Jingga Inlora I Narasimha Anil A Zia Amin A Lynch Janet Linnea JL Mazrouei Safoura S Bernstein Jonathan A JA Aryani Omid O Snyder Michael P MP

Cold Spring Harbor molecular case studies 20180201 1

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 ide ...[more]

PMID: 29092958

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