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

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

doi:10.1186/s13018-019-1061-9

Abstract

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.

Highlights

Progressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive skeletal dysplasia caused by mutations in the Wnt1-inducible signaling pathway protein 3 (WISP3) gene
Progressive pseudorheumatoid dysplasia (PPD) is an autosomal recessive disease characterized by spondyloepiphyseal dysplasia associated with progressive joint deformities, pain, stiffness, and swelling mainly in the spine and hip joints [1]
PPD is caused by mutation in the Wnt1-inducible signaling pathway protein 3 (WISP3) gene, which consists of five exons and encodes a 354 amino acid protein [2]

Summary

Introduction

Progressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive skeletal dysplasia caused by mutations in the Wnt1-inducible signaling pathway protein 3 (WISP3) gene. PPD is caused by mutation in the Wnt1-inducible signaling pathway protein 3 (WISP3) gene, which consists of five exons and encodes a 354 amino acid protein [2]. WISP3 belongs to the connective tissue growth factor (CCN) gene family, and the encoded protein plays an essential role in skeletal growth and cartilage homeostasis [3]. This disease is usually misdiagnosed as juvenile idiopathic arthritis or juvenile rheumatoid arthritis (JRA), and patients can receive many years of unnecessary treatment before correct diagnosis [4].

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