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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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
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author Yan, Wenjin
Dai, Jin
Xu, Zhihong
Shi, Dongquan
Chen, Dongyang
Xu, Xingquan
Song, Kai
Yao, Yao
Li, Lan
Ikegawa, Shiro
Teng, Huajian
Jiang, Qing
author_facet Yan, Wenjin
Dai, Jin
Xu, Zhihong
Shi, Dongquan
Chen, Dongyang
Xu, Xingquan
Song, Kai
Yao, Yao
Li, Lan
Ikegawa, Shiro
Teng, Huajian
Jiang, Qing
author_sort Yan, Wenjin
collection PubMed
description 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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spelling pubmed-51433632016-12-23 Novel WISP3 mutations causing progressive pseudorheumatoid dysplasia in two Chinese families Yan, Wenjin Dai, Jin Xu, Zhihong Shi, Dongquan Chen, Dongyang Xu, Xingquan Song, Kai Yao, Yao Li, Lan Ikegawa, Shiro Teng, Huajian Jiang, Qing Hum Genome Var Data Report 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. Nature Publishing Group 2016-12-08 /pmc/articles/PMC5143363/ /pubmed/28018607 http://dx.doi.org/10.1038/hgv.2016.41 Text en Copyright © 2016 The Author(s) http://creativecommons.org/licenses/by-nc-sa/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-sa/4.0/
spellingShingle Data Report
Yan, Wenjin
Dai, Jin
Xu, Zhihong
Shi, Dongquan
Chen, Dongyang
Xu, Xingquan
Song, Kai
Yao, Yao
Li, Lan
Ikegawa, Shiro
Teng, Huajian
Jiang, Qing
Novel WISP3 mutations causing progressive pseudorheumatoid dysplasia in two Chinese families
title Novel WISP3 mutations causing progressive pseudorheumatoid dysplasia in two Chinese families
title_full Novel WISP3 mutations causing progressive pseudorheumatoid dysplasia in two Chinese families
title_fullStr Novel WISP3 mutations causing progressive pseudorheumatoid dysplasia in two Chinese families
title_full_unstemmed Novel WISP3 mutations causing progressive pseudorheumatoid dysplasia in two Chinese families
title_short Novel WISP3 mutations causing progressive pseudorheumatoid dysplasia in two Chinese families
title_sort novel wisp3 mutations causing progressive pseudorheumatoid dysplasia in two chinese families
topic Data Report
url 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
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