Progressive pseudorheumatoid dysplasia confirmed by whole-exon sequencing in a Chinese adult before corrective surgery

被引：5

作者：

Li, Yan ^{[1
]}

Zeng, Yan ^{[1
]}

Chen, Zhongqiang ^{[1
]}

Xin, Haisong ^{[2
]}

Li, Xiaoliang ^{[2
]}

机构：

[1] Peking Univ, Hosp 3, Dept Orthoped, Huayuanbei Rd 49, Beijing 100191, Peoples R China

[2] Peoples Hosp Huanghua, Dept Orthoped, Cangzhou, Hebei, Peoples R China

来源：

JOURNAL OF ORTHOPAEDIC SURGERY AND RESEARCH | 2019年 / 14卷 / 1期

关键词：

Progressive pseudorheumatoid dysplasia; Whole-exon sequencing; Spinal surgery; FAMILY-MEMBER WISP3; MUTATIONS; DIAGNOSIS; GENE;

D O I：

10.1186/s13018-019-1061-9

中图分类号：

R826.8 [整形外科学]; R782.2 [口腔颌面部整形外科学]; R726.2 [小儿整形外科学]; R62 [整形外科学（修复外科学）];

学科分类号：

摘要：

BackgroundProgressive 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.MethodsHere, 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.ResultsA homozygous missense mutation (c.395G>A/p.C132Y) in WISP3 was identified that co-segregated with affected family members.ConclusionsOur 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.

引用

页数：7

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