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Novel WISP3 mutations causing progressive pseudorheumatoid dysplasia in two Chinese families.

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.

SUBMITTER: Yan W

PROVIDER: S-EPMC5143363 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature

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Novel WISP3 mutations causing progressive pseudorheumatoid dysplasia in two Chinese families.

Yan Wenjin W Dai Jin J Xu Zhihong Z Shi Dongquan D Chen Dongyang D Xu Xingquan X Song Kai K Yao Yao Y Li Lan L Ikegawa Shiro S Teng Huajian H Jiang Qing Q

Human genome variation 20161208

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 ...[more]

PMID: 28018607

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