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

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.

• Authors: Yan Li, Yan Zeng, Zhongqiang Chen, Haisong Xin, Xiaoliang Li
• Journal: Journal of orthopaedic surgery and research (J Orthop Surg Res) Vol. 14 Issue 1 Pg. 16 (Jan 11 2019) ISSN: 1749-799X [Electronic] England
• PMID: 30635069 (Publication Type: Case Reports, Journal Article)

Chemical References

• CCN Intercellular Signaling Proteins
• CCN6 protein, human

Topics

• Adult
• CCN Intercellular Signaling Proteins (genetics)
• Disease Progression
• Humans
• Joint Diseases (complications, congenital, diagnosis, genetics, surgery)
• Kyphosis (diagnostic imaging, etiology, surgery)
• Male
• Mutation, Missense
• Pedigree
• Radiography
• Spinal Stenosis (etiology, surgery)
• Tomography, X-Ray Computed
• Exome Sequencing (methods)