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

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