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PPRD occurs due to loss of function pathogenic variants in <jats:italic>WISP3<\/jats:italic> (<jats:italic>CCN6<\/jats:italic>) gene, located on chromosome 6q22. In this study, 23 unrelated Egyptian PPRD patients were clinically diagnosed based on medical history, physical and radiological examinations, and laboratory investigations. Sequencing of the whole <jats:italic>WISP3<\/jats:italic> (<jats:italic>CCN6<\/jats:italic>) exons and introns boundaries was carried out for all patients. A total of 11 different sequence variations were identified in the <jats:italic>WISP3<\/jats:italic> (<jats:italic>CCN6<\/jats:italic>) gene, five of them were new pathogenic variants: the NM_003880.3: c.80T&gt;A (p.L27*), c.161delG (p.C54fs*12), c.737T&gt;C (p.Leu246Pro), c.347\u20101G&gt;A (IVS3\u20101G&gt;A), and c.376C&gt;T (p.Q126*). The results of this study expand the spectrum of <jats:italic>WISP3<\/jats:italic> (<jats:italic>CCN6<\/jats:italic>) pathogenic variants associated with PPRD. Clinical and genetic analysis is important for proper genetic counseling to curb this rare disorder in the families.<\/jats:p>","DOI":"10.1002\/ajmg.a.63339","type":"journal-article","created":{"date-parts":[[2023,6,28]],"date-time":"2023-06-28T09:23:32Z","timestamp":1687944212000},"page":"2329-2336","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Clinical and molecular characterization in a cohort of patients with progressive pseudorheumatoid dysplasia"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6120-4643","authenticated-orcid":false,"given":"Dina","family":"El Dessouki","sequence":"first","affiliation":[{"name":"Clinical Genetics Department, Human Genetics and Genome Research Institute National Research Centre  Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8472-5911","authenticated-orcid":false,"given":"Khalda","family":"Amr","sequence":"additional","affiliation":[{"name":"Medical Molecular Genetics Department, Human Genetics and Genome Research Institute National Research Centre  Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naglaa","family":"Kholoussi","sequence":"additional","affiliation":[{"name":"Immunogenetics Department, Human Genetics and Genome Research Institute National Research Centre  Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hanaa M.","family":"Rady","sequence":"additional","affiliation":[{"name":"Rheumatology and Rehabilitation Department, Faculty of Medicine Cairo University  Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samia Ali","family":"Temtamy","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department, Human Genetics and Genome Research Institute National Research Centre  Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manal M. 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