title: NovelWISP3mutations 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 theWISP3for the other. ThreeWISP3mutations (c.396T>G, c.721T>G and c.679dup) were identified; the two missense mutations were novel. Our study expanded theWISP3mutation spectrum.
authors.affiliation: Department of Sports Medicine and Adult Reconstructive Surgery, Drum Tower Hospital, School of Medicine, Nanjing University , Jiangsu, China.
authors.forename: Wenjin
authors.initials: W
authors.lastname: Yan
authors.affiliation: Department of Sports Medicine and Adult Reconstructive Surgery, Drum Tower Hospital, School of Medicine, Nanjing University , Jiangsu, China.
authors.forename: Jin
authors.initials: J
authors.lastname: Dai
authors.affiliation: Department of Sports Medicine and Adult Reconstructive Surgery, Drum Tower Hospital, School of Medicine, Nanjing University , Jiangsu, China.
authors.forename: Zhihong
authors.initials: Z
authors.lastname: Xu
authors.affiliation: Department of Sports Medicine and Adult Reconstructive Surgery, Drum Tower Hospital, School of Medicine, Nanjing University , Jiangsu, China.
authors.forename: Dongquan
authors.initials: D
authors.lastname: Shi
authors.affiliation: Department of Sports Medicine and Adult Reconstructive Surgery, Drum Tower Hospital, School of Medicine, Nanjing University , Jiangsu, China.
authors.forename: Dongyang
authors.initials: D
authors.lastname: Chen
authors.affiliation: Department of Sports Medicine and Adult Reconstructive Surgery, Drum Tower Hospital, School of Medicine, Nanjing University , Jiangsu, China.
authors.forename: Xingquan
authors.initials: X
authors.lastname: Xu
authors.affiliation: Department of Sports Medicine and Adult Reconstructive Surgery, Drum Tower Hospital, School of Medicine, Nanjing University , Jiangsu, China.
authors.forename: Kai
authors.initials: K
authors.lastname: Song
authors.affiliation: Department of Sports Medicine and Adult Reconstructive Surgery, Drum Tower Hospital, School of Medicine, Nanjing University , Jiangsu, China.
authors.forename: Yao
authors.initials: Y
authors.lastname: Yao
authors.affiliation: Department of Sports Medicine and Adult Reconstructive Surgery, Drum Tower Hospital, School of Medicine, Nanjing University , Jiangsu, China.
authors.forename: Lan
authors.initials: L
authors.lastname: Li
authors.affiliation: Laboratory for Bone and Joint Diseases, Center for Integrative Medical Sciences , Tokyo, Japan.
authors.forename: Shiro
authors.initials: S
authors.lastname: Ikegawa
authors.affiliation: Laboratory for Bone and Joint Disease, Model Animal Research Center (MARC), Nanjing University , Jiangsu, China.
authors.forename: Huajian
authors.initials: H
authors.lastname: Teng
authors.affiliation: Department of Sports Medicine and Adult Reconstructive Surgery, Drum Tower Hospital, School of Medicine, Nanjing University , Jiangsu, China.
authors.forename: Qing
authors.initials: Q
authors.lastname: Jiang