Dec 27, 2016

Novel WISP3 mutations causing progressive pseudorheumatoid dysplasia in two Chinese families

Human Genome Variation
Wenjin YanQing Jiang

Abstract

Progressive pseudorheumatoid dysplasia (PPD) is a rare disease caused by mutations in the gene for Wnt1-inducible signaling pathway protein 3 (WISP3). Here, we report the clinical and radiographic manifestations of two Chinese PPD patients. We performed whole-exome sequencing for one patient and sequenced the WISP3 for the other. Three WISP3 mutations (c.396T>G, c.721T>G and c.679dup) were identified; the two missense mutations were novel. Our study expanded the WISP3 mutation spectrum.

  • References10
  • Citations2

Mentioned in this Paper

Study
Mice, Inbred BALB C
Genes
Pheophoridase Activity
Whole Exome Sequencing
Smad3 Protein
Etiology
Sequencing
Signal Pathways
Progressive Pseudorheumatoid Dysplasia

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