RGD Reference Report - Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia. - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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

Authors: Chapman, KL  Mortier, GR  Chapman, K  Loughlin, J  Grant, ME  Briggs, MD 
Citation: Chapman KL, etal., Nat Genet. 2001 Aug;28(4):393-6.
RGD ID: 1599920
Pubmed: PMID:11479597   (View Abstract at PubMed)
DOI: DOI:10.1038/ng573   (Journal Full-text)

Multiple epiphyseal dysplasia (MED) is a relatively mild and clinically variable osteochondrodysplasia, primarily characterized by delayed and irregular ossification of the epiphyses and early-onset osteoarthritis. Mutations in the genes encoding cartilage oligomeric matrix protein (COMP) and type IX collagen (COL9A2 and COL9A3) have previously been shown to cause different forms of MED (refs. 4-13). These dominant forms of MED (EDM1-3) are caused by mutations in the genes encoding structural proteins of the cartilage extracellular matrix (ECM); these proteins interact with high affinity in vitro. A recessive form of MED (EDM4) has also been reported; it is caused by a mutation in the diastrophic dysplasia sulfate transporter gene (SLC26A). A genomewide screen of family with autosomal-dominant MED not linked to the EDM1-3 genes provides significant genetic evidence for a MED locus on the short arm of chromosome 2 (2p24-p23), and a search for candidate genes identified MATN3 (ref. 18), encoding matrilin-3, within the critical region. Matrilin-3 is an oligomeric protein that is present in the cartilage ECM. We have identified two different missense mutations in the exon encoding the von Willebrand factor A (vWFA) domain of matrilin-3 in two unrelated families with MED (EDM5). These are the first mutations to be identified in any of the genes encoding the matrilin family of proteins and confirm a role for matrilin-3 in the development and homeostasis of cartilage and bone.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
MATN3Humanosteochondrodysplasia  IAGP  RGD 
Matn3Ratosteochondrodysplasia  ISOMATN3 (Homo sapiens) RGD 
Matn3Mouseosteochondrodysplasia  ISOMATN3 (Homo sapiens) RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
MATN3HumanDelayed epiphyseal ossification  IAGP DNA:missense mutation:cds:p.V194D (human)RGD 
Objects Annotated

Genes (Rattus norvegicus)
Matn3  (matrilin 3)

Genes (Mus musculus)
Matn3  (matrilin 3)

Genes (Homo sapiens)
MATN3  (matrilin 3)


Additional Information