Alpha-2-Deficient Collagen Disease

Meigel et al. (1974) described a 10-year-old son of consanguineous parents, with an apparently 'new' connective tissue disorder. The clinical and radiologic abnormalities were reminiscent of both Marfan syndrome and osteogenesis imperfecta. Study of cultured fibroblasts showed a complete failure of synthesis of alpha-2 chains of collagen. Information on the collagen synthesis by cultured fibroblasts from the parents would be of interest in connection with the presumed autosomal recessive inheritance. The assignment of the gene for the alpha-2 chain of type I collagen to chromosome 7 (Junien et al., 1982) may indicate that the mutation in Meigel disease is situated on that chromosome. Spranger (1981) pointed out that the findings in this single case are in question because of the tendency of normal cultured fibroblasts to show defective synthesis or secretion of alpha-2 chains.