Novel homozygous variant in WISP3 in a family with unrecognized progressive pseudorheumatoid dysplasia

Chandreshkumar Patel; Anas M Khanshour; David Wilkes; Jonathan J Rios; Kelly W Sheff; Lorien Nassi; Carol A Wise

doi:10.1002/ccr3.2884

Novel homozygous variant in WISP3 in a family with unrecognized progressive pseudorheumatoid dysplasia

Clin Case Rep. 2020 May 3;8(8):1452-1457. doi: 10.1002/ccr3.2884. eCollection 2020 Aug.

Authors

Chandreshkumar Patel¹, Anas M Khanshour¹, David Wilkes², Jonathan J Rios^{1

3

4

5}, Kelly W Sheff⁶, Lorien Nassi⁴, Carol A Wise^{1

3

4

5}

Affiliations

¹ Scottish Rite for Children Center for Pediatric Bone Biology and Translational Research Texas Scottish Rite Hospital for Children Dallas TX USA.
² Radiology Department Texas Scottish Rite Hospital for Children Dallas TX USA.
³ McDermott Center for Human Growth and Development University of Texas Southwestern Medical Center Dallas TX USA.
⁴ Department of Pediatrics University of Texas Southwestern Medical Center Dallas TX USA.
⁵ Orthopaedic Surgery University of Texas Southwestern Medical Center Dallas TX USA.
⁶ North Texas Genome Center University of Texas at Arlington Arlington TX USA.

Abstract

We present the use of whole-genome sequencing to correctly diagnose progressive pseudorheumatoid dysplasia in patients with atypical clinical and radiologic findings and prior diagnosis of juvenile idiopathic arthritis.

Keywords: WISP3; juvenile idiopathic arthritis (JIA); progressive pseudorheumatoid dysplasia (PPD); rheumatoid arthritis; whole‐genome sequencing (WGS).

Publication types

Case Reports

Grants and funding

T32 GM008203/GM/NIGMS NIH HHS/United States