Article
Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder.
Journal of medical genetics - 1 Apr 2000
Mortier G R, Weis M, Nuytinck L, King L M, Wilkin D J, De Paepe A, Lachman R S, Rimoin D L, Eyre D R, Cohn D H
Abstract excerpt
Achondrogenesis II-hypochondrogenesis and severe spondyloepiphyseal dysplasia congenita (SEDC) are lethal forms of dwarfism caused by dominant mutations in the type II collagen gene (COL2A1). To identify the underlying defect in seven cases with this group of conditions, we used the combined strategy of cartilage protein analysis and COL2A1 mutation analysis. Overmodified type II collagen and the presence of type...
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