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Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia

โœ Scribed by S. Ikegawa; Hirofumi Ohashi; Gen Nishimura; Kyoung Chang Kim; Akio Sannohe; Mamori Kimizuka; Yoshimitsu Fukushima; Toshiro Nagai; Yusuke Nakamura


Publisher
Springer
Year
1998
Tongue
English
Weight
187 KB
Volume
103
Category
Article
ISSN
0340-6717

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## Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (EDM1) are allelic disorders caused by mutations in the gene encoding cartilage oligomeric matrix protein (COMP) . PSACH is a dominant condition characterized by disproportionate short stature, joint laxity, and early-onset osteoart

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Pseudoachondroplasia (PSACH) is an autosomal dominant dwarfing condition characterized by disproportionate short stature, joint laxity, and early-onset osteoarthrosis. PSACH is caused by mutations in the gene encoding cartilage oligomeric matrix protein (COMP). We are reporting on mutations in COMP

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Pseudoachondroplasia (PSACH) and some forms of multiple epiphyseal dysplasia (MED) result from mutations in the gene encoding cartilage oligomeric matrix protein (COMP). COMP is a large pentameric glycoprotein found predominantly in the extracellular matrix of cartilage, tendon, and ligament. As a m