{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T01:07:36Z","timestamp":1793322456609,"version":"4.5.0"},"reference-count":20,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,1,27]],"date-time":"2005-01-27T00:00:00Z","timestamp":1106784000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2005,3]]},"abstract":"<jats:p>The inherited osteolysis syndromes are a heterogeneous group of skeletal disorders whose classification is still uncertain. Three osteolysis syndromes show autosomal recessive inheritance and multicentric involvement: Torg syndrome (OMIM 259600), Winchester syndrome (OMIM 277950) and Nodulosis\u2013Arthropathy\u2013Osteolysis syndrome (NAO; OMIM 605156). The 2001 Nosology of the International Skeletal Dysplasia Society (Hall CM, Am J Med Genet 2002: 113: 65) classifies NAO as a variant of Torg syndrome, while Winchester syndrome is considered as a separate disorder. Recently, mutations in the matrix metalloproteinase 2 (<jats:italic>MMP2<\/jats:italic>) gene were identified in affected individuals with a clinical diagnosis of NAO in two Arab families. We report a homozygous missense mutation (E404K) in the active site of <jats:italic>MMP2<\/jats:italic> in a 21\u2010year\u2010old woman with a severe form of osteolysis best compatible with a diagnosis of Winchester syndrome. The clinical and molecular findings suggest that Torg, NAO and Winchester syndromes are allelic disorders that form a clinical spectrum.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2004.00402.x","type":"journal-article","created":{"date-parts":[[2005,2,3]],"date-time":"2005-02-03T12:11:39Z","timestamp":1107432699000},"page":"261-266","source":"Crossref","is-referenced-by-count":64,"title":["Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2"],"prefix":"10.1111","volume":"67","author":[{"given":"A","family":"Zankl","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Bonaf\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V","family":"Calcaterra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Di Rocco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Superti\u2010Furga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,1,27]]},"reference":[{"key":"e_1_2_5_2_2","volume-title":"Bone dysplasias: an atlas of genetic disorders of skeletal development","author":"Spranger JW","year":"2002"},{"key":"e_1_2_5_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10828"},{"key":"e_1_2_5_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(69)80395-1"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19981116)80:3<207::AID-AJMG5>3.3.CO;2-1"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/0030-4220(92)90363-U"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.12.772"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.106.1.121"},{"key":"e_1_2_5_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20000703)93:1<11::AID-AJMG3>3.0.CO;2-3"},{"key":"e_1_2_5_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20000703)93:1<5::AID-AJMG2>3.0.CO;2-Y"},{"key":"e_1_2_5_11_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-001-0649-4"},{"key":"e_1_2_5_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/90100"},{"key":"e_1_2_5_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/path.1400"},{"key":"e_1_2_5_14_2","doi-asserted-by":"publisher","DOI":"10.1021\/bi00319a011"},{"key":"e_1_2_5_15_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.284.5420.1667"},{"key":"e_1_2_5_16_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI10158"},{"key":"e_1_2_5_17_2","doi-asserted-by":"publisher","DOI":"10.1038\/79128"},{"key":"e_1_2_5_18_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M208857200"},{"key":"e_1_2_5_19_2","doi-asserted-by":"publisher","DOI":"10.1101\/gad.14.2.163"},{"key":"e_1_2_5_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80064-1"},{"key":"e_1_2_5_21_2","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.143.3.827"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1399-0004.2004.00402.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1399-0004.2004.00402.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T08:49:03Z","timestamp":1696927743000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1399-0004.2004.00402.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,1,27]]},"references-count":20,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2005,3]]}},"alternative-id":["10.1111\/j.1399-0004.2004.00402.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1399-0004.2004.00402.x","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,1,27]]}}}