Congenital cutis laxa, a rare syndrome with marked skin laxity and pulmonary and
cardiovascular compromise, is due to defective elastic fiber formation. In several cases, skin
fibroblast tropoelastin production is markedly reduced yet reversed in vitro by transforming
growth factor-β treatment. We previously showed that this reversal was due to elastin mRNA
stabilization in one cell strain, and here this behavior was confirmed in skin fibroblasts from
two generations of a second family. cDNA sequencing and heteroduplex analysis of elastin …