COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture

Summary We have recently analysed by hislological, protein and molecular DNA techniques 23 mutations of the collagen III gene (COL3AI). most of which cause premature arterial fragility, thin skin and variants of vascular Ehlers-Danlos syndrome. There were 14 glycinesubstitutions between residues 637 and 1021. eight exon skips between exons 7 and 45 and one small inframe deletion. The glycine substitutions produce a gradient of increasingly...