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Article

Mutation of membrane type-1 metalloproteinase, MT1-MMP, causes the multicentric osteolysis and arthritis disease Winchester syndrome.

American journal of human genetics - 7 Sept 2012

Evans Brad R, Mosig Rebecca A, Lobl Mollie, Martignetti Chiara R, Camacho Catalina, Grum-Tokars Valerie, Glucksman Marc J, Martignetti John A

Abstract excerpt

The "vanishing bone" syndromes represent a group of rare skeletal disorders characterized by osteolysis and joint destruction, which can mimic severe rheumatoid arthritis. Winchester syndrome was one of the first recognized autosomal-recessive, multicentric forms of the disorder. It was originally described nearly 50 years ago in two sisters with a severe crippling osteolysis. Using cultured fibroblasts from the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22922033
DOI: 10.1016/j.ajhg.2012.07.022
PMCID: PMC3512002

Genes

MMP14
MMP2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation of membrane type-1 metalloproteinase, MT1-MMP, causes the multicentric osteolysis and arthritis disease Winchester syndrome.PMID 22922033Read ↗

Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2Semantic proximity Read ↗

Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome.Semantic proximity Read ↗

Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotypeSemantic proximity Read ↗

Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype.Semantic proximity Read ↗

A novel homozygous MMP2 mutation in a family with Winchester syndrome.Semantic proximity Read ↗

A report of three patients with MMP2 associated hereditary osteolysis.Semantic proximity Read ↗

Patient with mutation in the matrix metalloproteinase 2 (MMP2) gene - a case report and review of the literature.Semantic proximity Read ↗

A common SNP risk variant MT1-MMP causative for Dupuytren's disease has a specific defect in collagenolytic activity.Semantic proximity Read ↗

Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".Semantic proximity Read ↗

Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome.Semantic proximity Read ↗

Multicentric Carpotarsal Osteolysis: a Contemporary Perspective on the Unique Skeletal Phenotype.Semantic proximity Read ↗

An SNP variant MT1-MMP with a defect in its collagenolytic activity confers the fibrotic phenotype of Dupuytren’s DiseaseSemantic proximity Read ↗

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