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.
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Authors | A Zankl, L Bonafé, V Calcaterra, M Di Rocco, A Superti-Furga |
Journal | Clinical genetics
(Clin Genet)
Vol. 67
Issue 3
Pg. 261-6
(Mar 2005)
ISSN: 0009-9163 [Print] Denmark |
PMID | 15691365
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Matrix Metalloproteinase 2
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Topics |
- Adult
- Arabs
(genetics)
- DNA Mutational Analysis
- Female
- Humans
- Matrix Metalloproteinase 2
(genetics)
- Mutation, Missense
- Osteolysis
(genetics)
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