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Article

Absence of MMP2 mutation in idiopathic multicentric osteolysis with nephropathy.

Clinical orthopaedics and related research - 1 Sept 2007

Wenkert Deborah, Mumm Steven, Wiegand Stefanie M, McAlister William H, Whyte Michael P

Abstract excerpt

The genetic basis of idiopathic multicentric osteolysis with nephropathy is unknown. This disorder is typically a sporadic, but sometimes an autosomal dominant, condition featuring carpal-tarsal destruction and nephropathy causing renal failure. Loss-of-function mutation within the gene encoding matrix metalloproteinase 2 (MMP2) causes the autosomal recessive disorder nodulosis-arthropathy-osteolysis syndrome...

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Source

Identifiers

PMID: 17563705
DOI: 10.1097/BLO.0b013e3180d09db8

Genes

MMP2

Provenance

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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Absence of MMP2 mutation in idiopathic multicentric osteolysis with nephropathy.PMID 17563705Read ↗

Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy.Semantic proximity Read ↗

Multicentric Osteolysis, Nodulosis, and Arthropathy in Two Unrelated Children with Matrix Metalloproteinase 2 Variants: Genetic-Skeletal CorrelationsSemantic proximity Read ↗

Multicentric Carpotarsal Osteolysis Syndrome Associated Nephropathy: Novel Variants of MAFB Gene and Literature ReviewSemantic proximity Read ↗

A case report of multicentric carpotarsal osteolysis syndrome: Depiction of a debilitating disease course.Semantic proximity Read ↗

The identification of <i>MAFB</i> mutations in eight patients with multicentric carpo–tarsal osteolysis supports genetic homogeneity but clinical variabilitySemantic proximity Read ↗

Identification of a novel mutation in the MAFB gene in a pediatric patient with multicentric carpotarsal osteolysis syndrome using next-generation sequencing.Semantic proximity Read ↗

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

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

Multicentric carpotarsal osteolysis syndrome is caused by only a few domain-specific mutations in MAFB, a negative regulator of RANKL-induced osteoclastogenesis.Semantic proximity Read ↗

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