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Article

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

Nature genetics - 1 Jul 2001

Martignetti J A, Aqeel A A, Sewairi W A, Boumah C E, Kambouris M, Mayouf S A, Sheth K V, Eid W A, Dowling O, Harris J, Glucksman M J, Bahabri S, Meyer B F, Desnick R J

Abstract excerpt

The inherited osteolyses or 'vanishing bone' syndromes are a group of rare disorders of unknown etiology characterized by destruction and resorption of affected bones. The multicentric osteolyses are notable for interphalangeal joint erosions that mimic severe juvenile rheumatoid arthritis (OMIMs 166300, 259600, 259610 and 277950). We recently described an autosomal recessive form of multicentric osteolysis with...

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Identifiers

PMID: 11431697
DOI: 10.1038/90100

Genes

MMP2
TIMP2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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