{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T14:43:29Z","timestamp":1789224209502,"version":"build-2803163510"},"reference-count":21,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,9,8]],"date-time":"2005-09-08T00:00:00Z","timestamp":1126137600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2005,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Progressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive syndrome characterized by the presence of spondyloepiphyseal dysplasia associated with pain, stiffness, and swelling of multiple joints, osteoporosis, and the absence of destructive bone changes. The disorder is caused by mutations of the <jats:italic>WISP3<\/jats:italic> gene located on chromosome 6q22. We hereby report the molecular study of the <jats:italic>WISP3<\/jats:italic> gene in nine unrelated consanguineous families originating from the Middle\u2010East: three from Lebanon, five from Syria, and one from Palestinian Bedouin descent, all affected with PPD. Five different sequence variations were identified in the <jats:italic>WISP3<\/jats:italic> gene, two of them being new mutations: the c.589G\u2009\u2192\u2009C transversion at codon 197, responsible for a splicing defect (A197fsX201); and the c.536_537delGT deletion (C179fsX), both in exon 3. In all other families, the affected patients were homozygous for a previously described nonsense mutation, namely c.156C\u2009\u2192\u2009A (C52X). Interestingly, in the latter families, the C52X mutation was always found associated with a novel c.248G\u2009\u2192\u2009A (G83E) variation, suggesting the existence of a founder effect. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30906","type":"journal-article","created":{"date-parts":[[2005,9,8]],"date-time":"2005-09-08T23:16:48Z","timestamp":1126221408000},"page":"118-126","source":"Crossref","is-referenced-by-count":46,"title":["Molecular study of <i>WISP3<\/i> in nine families originating from the Middle\u2010East and presenting with progressive pseudorheumatoid dysplasia: Identification of two novel mutations, and description of a founder effect"],"prefix":"10.1002","volume":"138A","author":[{"given":"Val\u00e9rie","family":"Delague","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eliane","family":"Chouery","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Corbani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ismat","family":"Ghanem","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suhail","family":"Aamar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith","family":"Fischer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ephrat","family":"Levy\u2010Lahad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. Andoni","family":"Urtizberea","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9","family":"M\u00e9garban\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,9,8]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.21.3.193"},{"issue":"3","key":"e_1_2_6_3_1","first-page":"275","article-title":"Genetic study of eight cases of spondylo\u2010epiphyseal dysplasia tarda and its autosomal recessive transmission","volume":"34","author":"Chaabouni H","year":"1986","journal-title":"J Genet Hum"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(87)90021-2"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00296-003-0341-0"},{"key":"e_1_2_6_6_1","first-page":"A274","article-title":"The assignment of the gene responsible for progressive pseudorheumatoid dysplasia to the long arm of chromosome 6 and examination of COL10A1 as a candidate gene","volume":"61","author":"El\u2010Shanti H","year":"1997","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.7.559"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050784"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/12699"},{"issue":"8","key":"e_1_2_6_10_1","first-page":"831","article-title":"Nanisme syndesmodysplasique familial: une entit\u00e9 morbide nouvelle","volume":"29","author":"Laplane R","year":"1972","journal-title":"Arch Fr Pediatr"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1993.tb03868.x"},{"issue":"4","key":"e_1_2_6_12_1","first-page":"411","article-title":"Spondyloepiphyseal dysplasia tarda simulating juvenile arthritis: Clinical and molecular genetic observations","volume":"10","author":"Lewkonia RM","year":"1992","journal-title":"Clin Exp Rheumatol"},{"issue":"2","key":"e_1_2_6_13_1","first-page":"174","article-title":"Gene symbol: WISP3. Disease: Spondyloepihyseal dysplasia tarda with progressive arthropathy","volume":"115","author":"Liao EY","year":"2004","journal-title":"Hum Genet"},{"issue":"2","key":"e_1_2_6_14_1","first-page":"169","article-title":"Gene symbol: WISP3. Disease: Spondyloepiphyseal dysplasia tarda with progressive arthropathy","volume":"115","author":"Liao EY","year":"2004","journal-title":"Hum Genet"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.25.14717"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00971792"},{"issue":"1096","key":"e_1_2_6_17_1","first-page":"225","article-title":"Spondylo\u2010epiphyseal dysplasia tarda with progressive arthropathy: Description of a patient whose mother showed minimal features of the disease","volume":"85","author":"Rasore\u2010Quartino A","year":"1993","journal-title":"Pathologica"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00932456"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.20005"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320140224"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.23.2.189-a"},{"issue":"4","key":"e_1_2_6_22_1","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1302\/0301-620X.64B4.6807993","article-title":"Spondylo\u2010epiphysial dysplasia tarda with progressive arthropathy. A \u201cnew\u201d disorder of autosomal recessive inheritance","volume":"64","author":"Wynne\u2010Davies R","year":"1982","journal-title":"J Bone Joint Surg Br"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.30906","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30906","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T21:19:15Z","timestamp":1697663955000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30906"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,9,8]]},"references-count":21,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2005,10]]}},"alternative-id":["10.1002\/ajmg.a.30906"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30906","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,9,8]]}}}