两个中国家庭中导致进行性假类风湿性发育不良的新突变。
Novel mutations causing progressive pseudorheumatoid dysplasia in two Chinese families.
作者信息
Yan Wenjin, Dai Jin, Xu Zhihong, Shi Dongquan, Chen Dongyang, Xu Xingquan, Song Kai, Yao Yao, Li Lan, Ikegawa Shiro, Teng Huajian, Jiang Qing
机构信息
Department of Sports Medicine and Adult Reconstructive Surgery, Drum Tower Hospital, School of Medicine, Nanjing University , Jiangsu, China.
Laboratory for Bone and Joint Diseases, Center for Integrative Medical Sciences , Tokyo, Japan.
出版信息
Hum Genome Var. 2016 Dec 8;3:16041. doi: 10.1038/hgv.2016.41. eCollection 2016.
Progressive pseudorheumatoid dysplasia (PPD) is a rare disease caused by mutations in the gene for Wnt1-inducible signaling pathway protein 3 (). Here, we report the clinical and radiographic manifestations of two Chinese PPD patients. We performed whole-exome sequencing for one patient and sequenced the for the other. Three mutations (c.396T>G, c.721T>G and c.679dup) were identified; the two missense mutations were novel. Our study expanded the mutation spectrum.
进行性假类风湿性发育不良（PPD）是一种由Wnt1诱导信号通路蛋白3（）基因突变引起的罕见疾病。在此，我们报告了两名中国PPD患者的临床和影像学表现。我们对一名患者进行了全外显子组测序，对另一名患者进行了基因测序。鉴定出三个基因突变（c.396T>G、c.721T>G和c.679dup）；两个错义突变是新发现的。我们的研究扩展了基因突变谱。
Zotero 插件