Identification of a mutation in the WISP3 gene in three unrelated families with progressive pseudorheumatoid dysplasia.

Abstract excerpt

Progressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive genetic disease, which is caused by the functional loss or abnormality of Wntl-inducible signaling pathway protein 3 [WISP3 protein (also termed CCN6, OMIM #603400)]. WISP3 is a member of the cysteine-rich 61/connective tissue growth factor/nephroblastoma overexpressed protein family. Mutations in WISP3 may result in continuous...

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