{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T14:43:28Z","timestamp":1789224208615,"version":"build-2803163510"},"reference-count":39,"publisher":"Cold Spring Harbor Laboratory","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cold Spring Harb Mol Case Stud"],"published-print":{"date-parts":[[2018,2]]},"abstract":"<jats:p>Progressive pseudorheumatoid dysplasia (PPD) is a skeletal dysplasia characterized by predominant involvement of articular cartilage with progressive joint stiffness. Here we report genetic characterization of a consanguineous family segregating an uncharacterized from of skeletal dysplasia. Whole-exome sequencing of four affected siblings and their parents identified a loss-of-function homozygous mutation in the <jats:italic>WISP3<\/jats:italic> gene, leading to diagnosis of PPD in the affected individuals. The identified variant (Chr6: 112382301; WISP3:c.156C&gt;A p.Cys52*) is rare and predicted to cause premature termination of the <jats:italic>WISP3<\/jats:italic> protein.<\/jats:p>","DOI":"10.1101\/mcs.a001990","type":"journal-article","created":{"date-parts":[[2017,11,2]],"date-time":"2017-11-02T00:30:56Z","timestamp":1509582656000},"page":"a001990","source":"Crossref","is-referenced-by-count":17,"title":["<i>WISP3<\/i> mutation associated with pseudorheumatoid dysplasia"],"prefix":"10.1101","volume":"4","author":[{"given":"M. Reza","family":"Sailani","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Chappell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inlora","family":"Jingga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anil","family":"Narasimha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amin","family":"Zia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janet Linnea","family":"Lynch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Safoura","family":"Mazrouei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan A.","family":"Bernstein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Omid","family":"Aryani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael P.","family":"Snyder","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"246","published-online":{"date-parts":[[2017,11,1]]},"reference":[{"key":"2021112506140543000_4.1.a001990.1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37164"},{"key":"2021112506140543000_4.1.a001990.2","doi-asserted-by":"publisher","DOI":"10.1016\/0014-5793(93)80155-N"},{"key":"2021112506140543000_4.1.a001990.3","doi-asserted-by":"publisher","DOI":"10.1093\/database\/baw127"},{"key":"2021112506140543000_4.1.a001990.4","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35620"},{"key":"2021112506140543000_4.1.a001990.5","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1002\/ajmg.a.30906","article-title":"Molecular study of WISP3 in nine families originating from the Middle-East and presenting with progressive pseudorheumatoid dysplasia: identification of two novel mutations, and description of a founder effect","volume":"138A","year":"2005","journal-title":"Am J Med Genet A"},{"key":"2021112506140543000_4.1.a001990.6","doi-asserted-by":"publisher","DOI":"10.1007\/s00296-003-0341-0"},{"key":"2021112506140543000_4.1.a001990.7","doi-asserted-by":"publisher","DOI":"10.1016\/j.semarthrit.2012.09.001"},{"key":"2021112506140543000_4.1.a001990.8","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200187"},{"key":"2021112506140543000_4.1.a001990.9","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1007\/s004390050784","article-title":"Genetic linkage of progressive pseudorheumatoid dysplasia to a 3-cM interval of Chromosome 6q22","volume":"103","year":"1998","journal-title":"Hum Genet"},{"key":"2021112506140543000_4.1.a001990.10","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1002\/ajmg.c.31333","article-title":"The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals","volume":"160C","year":"2012","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"2021112506140543000_4.1.a001990.11","doi-asserted-by":"publisher","DOI":"10.1016\/j.tibs.2008.07.006"},{"key":"2021112506140543000_4.1.a001990.12","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1207458110"},{"key":"2021112506140543000_4.1.a001990.13","doi-asserted-by":"crossref","first-page":"25180","DOI":"10.18632\/oncotarget.7734","article-title":"The matricellular protein CCN6 (WISP3) decreases Notch1 and suppresses breast cancer initiating cells","volume":"7","year":"2016","journal-title":"Oncotarget"},{"key":"2021112506140543000_4.1.a001990.14","doi-asserted-by":"publisher","DOI":"10.1038\/12699"},{"key":"2021112506140543000_4.1.a001990.15","doi-asserted-by":"publisher","DOI":"10.1016\/0959-440X(95)80102-2"},{"key":"2021112506140543000_4.1.a001990.16","doi-asserted-by":"publisher","DOI":"10.1086\/377110"},{"key":"2021112506140543000_4.1.a001990.17","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181daae9b"},{"key":"2021112506140543000_4.1.a001990.18","first-page":"169","article-title":"Gene symbol: WISP3. 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