Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2.
Clin Genet
; 67(3): 261-6, 2005 Mar.
Article
em En
| MEDLINE
| ID: mdl-15691365
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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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Osteólise
/
Metaloproteinase 2 da Matriz
Tipo de estudo:
Prognostic_studies
Limite:
Adult
/
Female
/
Humans
Idioma:
En
Revista:
Clin Genet
Ano de publicação:
2005
Tipo de documento:
Article
País de afiliação:
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