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Table 2 Genetic disorders and the mutant cartilage matrix proteoglycans and proteins with which they are associated

From: Articular cartilage and changes in Arthritis: Noncollagenous proteins and proteoglycans in the extracellular matrix of cartilage

Mutant matrix molecule

Associated disorder1

Aggrecan (impaired core

Cartilage matrix deficiency (in mice)

protein synthesis)

Nanomelia (in chickens)

 

Brachymorphism (in mice)

Aggrecan (impaired

Diastrophic dysplasia

glycosaminoglycan sulfation)

Achondrogenesis 1B

 

Atelosteogenesis type II

Perlecan

Chondrodystrophic myotonia

 

Dyssegmental dysplasia

SZP

Camptodactyly-arthropathy-

 

coxa vara-pericarditis syndrome

COMP

Pseudoachondroplasia

 

Multiple epiphyseal dysplasia

  1. 1Human disorder unless indicated otherwise. COMP = cartilage oligomeric protein; SZP = superficial zone protein.