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Journal of Orthopaedic Surgery and Research

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Open Access 01-12-2019 | Juvenile Rheumatoid Arthritis | Research article

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

Authors: Yan Li, Yan Zeng, Zhongqiang Chen, Haisong Xin, Xiaoliang Li

Published in: Journal of Orthopaedic Surgery and Research | Issue 1/2019

Abstract

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.

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Title: Progressive pseudorheumatoid dysplasia confirmed by whole-exon sequencing in a Chinese adult before corrective surgery
Authors: Yan Li
Yan Zeng
Zhongqiang Chen
Haisong Xin
Xiaoliang Li
Publication date: 01-12-2019
Publisher: BioMed Central
Keywords: Juvenile Rheumatoid Arthritis
Juvenile Rheumatoid Arthritis
Spinal Surgery
Published in: Journal of Orthopaedic Surgery and Research / Issue 1/2019
Electronic ISSN: 1749-799X
DOI: https://doi.org/10.1186/s13018-019-1061-9

Keynote webinar | Spotlight on medication adherence

Springer Medicine

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

Abstract

Background

Methods

Results

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Methods

Results

Conclusions

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