全外显子测序确诊一名中国成年患者在矫正手术前患有进行性假类风湿性发育不良。
Progressive pseudorheumatoid dysplasia confirmed by whole-exon sequencing in a Chinese adult before corrective surgery.
作者信息
Li Yan, Zeng Yan, Chen Zhongqiang, Xin Haisong, Li Xiaoliang
机构信息
Department for Orthopedics, Peking University Third Hospital, Huayuanbei Rd 49#, Beijing, 100191, China.
Department for Orthopedics, People's Hospital of Huanghua, Cangzhou, Hebei, China.
出版信息
J Orthop Surg Res. 2019 Jan 11;14(1):16. doi: 10.1186/s13018-019-1061-9.
BACKGROUND
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.
METHODS
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.
RESULTS
A homozygous missense mutation (c.395G>A/p.C132Y) in WISP3 was identified that co-segregated with affected family members.
CONCLUSIONS
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.
背景
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。
方法
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。
结果
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。
结论
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。
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