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Clinical and molecular characterization in a cohort of patients with progressive pseudorheumatoid dysplasia

Dina El Dessouki1, Khalda Amr2, Naglaa Kholoussi3

  • 1Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.

American Journal of Medical Genetics. Part A
|June 28, 2023
PubMed

Insights

This study identified five novel pathogenic variants in the WISP3 gene in Egyptian patients with progressive pseudorheumatoid dysplasia (PPRD). These findings expand the known genetic causes of this rare skeletal dysplasia.

Area of Science:

  • Genetics
  • Molecular Biology
  • Rheumatology

Background:

  • Progressive pseudorheumatoid dysplasia (PPRD) is a rare autosomal recessive skeletal dysplasia.
  • It is characterized by joint pain, stiffness, and swelling without destructive changes.
  • PPRD is caused by loss-of-function variants in the WISP3 (CCN6) gene.

Purpose of the Study:

  • To identify WISP3 (CCN6) gene variants in Egyptian patients diagnosed with PPRD.
  • To expand the spectrum of known pathogenic variants associated with PPRD.
  • To provide insights for genetic counseling regarding this rare disorder.

Main Methods:

  • Clinical diagnosis of 23 unrelated Egyptian PPRD patients using medical history, physical, and radiological examinations.
  • Sequencing of all WISP3 (CCN6) exons and intron boundaries.
  • Identification and characterization of sequence variations in the WISP3 (CCN6) gene.

Main Results:

  • Eleven different sequence variations were identified in the WISP3 (CCN6) gene among the patients.
  • Five novel pathogenic variants were discovered: c.80T>A (p.L27*), c.161delG (p.C54fs*12), c.737T>C (p.Leu246Pro), c.347-1G>A (IVS3-1G>A), and c.376C>T (p.Q126*).
  • These findings broaden the understanding of WISP3 (CCN6) mutations linked to PPRD.

Conclusions:

  • The study successfully identified novel pathogenic variants in the WISP3 (CCN6) gene in Egyptian PPRD patients.
  • This expands the known genetic landscape of progressive pseudorheumatoid dysplasia.
  • Clinical and genetic analysis is crucial for effective genetic counseling and managing PPRD within families.
Keywords:
Egyptian patientsWISP3 (CCN6) genenovel pathogenic variantsprogressive pseudorheumatoid dysplasia

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