Li Yan, Zeng Yan, Chen Zhongqiang, Xin Haisong, Li Xiaoliang
Department for Orthopedics, Peking University Third Hospital, Huayuanbei Rd 49#, Beijing, 100191, China.
Department for Orthopedics, People's Hospital of Huanghua, Cangzhou, Hebei, China.
J Orthop Surg Res. 2019 Jan 11;14(1):16. doi: 10.1186/s13018-019-1061-9.
Progressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive skeletal dysplasia caused by mutations in the Wnt1-inducible signaling pathway protein 3 (WISP3) gene. Available literatures in PPD emphasized treatment strategy for polyarthritis, while few mentioned spinal deformity and related surgical intervention.
Here, we present a Chinese man with PPD who underwent spinal surgery twice because of canal stenosis and related symptoms caused by the disease. Whole-exon sequencing (WES) was performed to confirm diagnosis before the second surgery.
A homozygous missense mutation (c.395G>A/p.C132Y) in WISP3 was identified that co-segregated with affected family members.
Our study illustrated a surgical outcome of PPD and highlighted the significance of early diagnosis and individualized surgical strategy, and also verified the value of WES in the diagnosis of PPD.
进行性假性类风湿性发育不良（PPD）是一种罕见的常染色体隐性遗传性骨骼发育不良，由Wnt1诱导信号通路蛋白3（WISP3）基因突变引起。关于PPD的现有文献主要强调多关节炎的治疗策略，而很少提及脊柱畸形及相关手术干预。
在此，我们报告一名患有PPD的中国男性，因其疾病导致椎管狭窄及相关症状而接受了两次脊柱手术。在第二次手术前进行了全外显子测序（WES）以确诊。
在WISP3基因中鉴定出一个纯合错义突变（c.395G>A/p.C132Y），该突变与受影响的家庭成员共分离。
我们的研究阐述了PPD的手术结果，强调了早期诊断和个体化手术策略的重要性，同时也验证了WES在PPD诊断中的价值。
