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WISP3 mutation associated with pseudorheumatoid dysplasia.

M Reza Sailani1, James Chappell1, Inlora Jingga1

  • 1Department of Genetics, Stanford University, Stanford, California 94304, USA.

Cold Spring Harbor Molecular Case Studies
|November 3, 2017
PubMed
Summary

Progressive pseudorheumatoid dysplasia (PPD) is a rare genetic disorder. Genetic analysis identified a WISP3 gene mutation causing PPD in a consanguineous family, confirming the gene

Keywords:
multiple skeletal anomaliesspondyloepimetaphyseal dysplasia

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Area of Science:

  • Genetics
  • Skeletal Dysplasias
  • Molecular Biology

Background:

  • Progressive pseudorheumatoid dysplasia (PPD) is a rare skeletal dysplasia.
  • It primarily affects articular cartilage, leading to progressive joint stiffness.

Purpose of the Study:

  • To genetically characterize a family with an uncharacterized skeletal dysplasia.
  • To identify the genetic cause of PPD in this family.

Main Methods:

  • Whole-exome sequencing was performed on affected siblings and parents.
  • Genetic variants were analyzed to identify the causative mutation.

Main Results:

  • A homozygous loss-of-function mutation in the WISP3 gene was identified.
  • The specific variant (c.156C>A p.Cys52*) is rare and leads to premature protein termination.
  • This confirmed the diagnosis of PPD in the affected individuals.

Conclusions:

  • The study identified a novel WISP3 mutation responsible for PPD in a consanguineous family.
  • This finding expands the mutational spectrum of WISP3 in PPD.
  • Genetic characterization is crucial for diagnosing rare skeletal dysplasias.