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

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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.




  
Object Symbol
Species
Term
Qualifier
Evidence
With
Notes
Source
Original Reference(s)
MATN3Humanosteochondrodysplasia  IAGP  RGD 
Matn3Ratosteochondrodysplasia  ISOMATN3 (Homo sapiens) RGD 
Matn3Mouseosteochondrodysplasia  ISOMATN3 (Homo sapiens) RGD 

Object Symbol
Species
Term
Qualifier
Evidence
With
Notes
Source
Original Reference(s)
MATN3HumanDelayed epiphyseal ossification  IAGP DNA:missense mutation:cds:p.V194D (human)RGD 

Genes (Rattus norvegicus)
Matn3  (matrilin 3)

Genes (Mus musculus)
Matn3  (matrilin 3)

Genes (Homo sapiens)
MATN3  (matrilin 3)