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

Details

Serval ID
serval:BIB_B5EDDC543658
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2.
Journal
Clinical Genetics
Author(s)
Zankl A., Bonafé L., Calcaterra V., Di Rocco M., Superti-Furga A.
ISSN
0009-9163
Publication state
Published
Issued date
03/2005
Peer-reviewed
Oui
Volume
67
Number
3
Pages
261-266
Language
english
Notes
Publication types: Case Reports ; Journal Article
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.
Keywords
Adult, Arabs/genetics, DNA Mutational Analysis, Female, Humans, Matrix Metalloproteinase 2/genetics, Mutation, Missense, Osteolysis/genetics
Pubmed
Web of science
Create date
21/01/2008 12:50
Last modification date
20/08/2019 15:24
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