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Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2.

Abstract
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-Arthropathy-Osteolysis 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 (MMP2) 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 MMP2 in a 21-year-old 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.
AuthorsA Zankl, L Bonafé, V Calcaterra, M Di Rocco, A Superti-Furga
JournalClinical genetics (Clin Genet) Vol. 67 Issue 3 Pg. 261-6 (Mar 2005) ISSN: 0009-9163 [Print] Denmark
PMID15691365 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Matrix Metalloproteinase 2
Topics
  • Adult
  • Arabs (genetics)
  • DNA Mutational Analysis
  • Female
  • Humans
  • Matrix Metalloproteinase 2 (genetics)
  • Mutation, Missense
  • Osteolysis (genetics)

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