Novel WISP3 mutations causing progressive pseudorheumatoid dysplasia in two Chinese families

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 seq...

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Detalles Bibliográficos
Autores principales: Yan, Wenjin, Dai, Jin, Xu, Zhihong, Shi, Dongquan, Chen, Dongyang, Xu, Xingquan, Song, Kai, Yao, Yao, Li, Lan, Ikegawa, Shiro, Teng, Huajian, Jiang, Qing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5143363/
https://www.ncbi.nlm.nih.gov/pubmed/28018607
http://dx.doi.org/10.1038/hgv.2016.41
Descripción
Sumario: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.

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