Novel WISP3 mutations causing spondyloepiphyseal dysplasia tarda with progressive arthropathy in two unrelated Chinese families.

Abstract

Spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA) is an autosomal recessive skeletal disorder resulting from pathogenic mutations in the Wnt1-inducible signaling pathway protein 3 (WISP3) gene. This disorder predominantly involves the skeletal system, with the leading features of platyspondyly, metaphyseal dysplasia of limbs and extremities, and progressive degeneration of joints. To date, 53 distinct forms of WISP3 mutations have been detected globally, eleven of which originated from Chinese patients. In the current study, we reported the clinical manifestations and radiographic features of two unrelated Chinese SEDT-PA patients. Through genetic analysis, two novel mutations (c.624delA, c.105dupT) as well as one recurrent mutation (c.342T>G) were identified in the WISP3 gene. Our study contributed to the further expansion of the WISP3 mutation spectrum, and demonstrated the genotype-phenotype relationship between mutations in the WISP3 gene and clinical findings of SEDT-PA.

• Authors: Limin Liu, Nan Li, Zhen Zhao, Wei Li, Weibo Xia
• Journal: Joint bone spine (Joint Bone Spine) Vol. 82 Issue 2 Pg. 125-8 (Mar 2015) ISSN: 1778-7254 [Electronic] France
• PMID: 25553839 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2014 Société française de rhumatologie. Published by Elsevier SAS. All rights reserved.

Chemical References

• CCN Intercellular Signaling Proteins
• CCN6 protein, human

Topics

• Adolescent
• Adult
• Arthropathy, Neurogenic (genetics)
• Asian People (genetics)
• CCN Intercellular Signaling Proteins (genetics)
• Humans
• Joint Diseases (congenital)
• Male
• Mutation