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Article

Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia.

Human mutation - 1 Nov 2004

Mabuchi Akihiko, Haga Nobuhiko, Maeda Koichi, Nakashima Eiji, Manabe Noriyo, Hiraoka Hisatada, Kitoh Hiroshi, Kosaki Rika, Nishimura Gen, Ohashi Hirofumi, Ikegawa Shiro

Abstract excerpt

Multiple epiphyseal dysplasia (MED) is a common skeletal dysplasia characterized by joint pain and stiffness, delayed and irregular ossification of epiphyses, and early-onset osteoarthritis. Six genes responsible for MED have been identified, including COMP, COL9A1, COL9A2, COL9A3, DSTDT and MATN3. MATN3 encodes matrilin-3, a cartilage-specific extracellular matrix protein. To date, seven different MATN3...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15459972
DOI: 10.1002/humu.9286

Genes

MATN3
COMP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia.PMID 15459972Read ↗

Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia.Semantic proximity Read ↗

Comprehensive screening of multiple epiphyseal dysplasia mutations in Japanese population.Semantic proximity Read ↗

Two families with spondylo-epi-metaphyseal dysplasia due to compound heterozygocity in the vWFA domain of MATN3.Semantic proximity Read ↗

Comparison of orthopaedic manifestations of multiple epiphyseal dysplasia caused by MATN3 versus COMP mutations: a case control study.Semantic proximity Read ↗

Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients.Semantic proximity Read ↗

MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia.Semantic proximity Read ↗

Novel COL9A3 mutation in a family with multiple epiphyseal dysplasia.Semantic proximity Read ↗

COL9A3: A third locus for multiple epiphyseal dysplasia.Semantic proximity Read ↗

Mutation in the von Willebrand factor-A domain is not a prerequisite for the MATN3 mutation in multiple epiphyseal dysplasia.Semantic proximity Read ↗

Similarities and Differences of Multiple Epiphyseal Dysplasias: Genetic Features and Natural Course in 22 Patients.Semantic proximity Read ↗

Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy.Semantic proximity Read ↗

Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations.Semantic proximity Read ↗

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