Lieve Nuytinck, Margarida Freund, Lieven Lagae, Gerald E

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Classical Ehlers-Danlos Syndrome Caused by a Mutation in Type I Collagen Lieve Nuytinck, Margarida Freund, Lieven Lagae, Gerald E. Pierard, Trinh Hermanns-Le, Anne De Paepe The American Journal of Human Genetics Volume 66, Issue 4, Pages 1398-1402 (April 2000) DOI: 10.1086/302859 Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 1 Ultrastructural findings in the skin of patient 2. A, On the transverse section (28,400×), the collagen fibrils show a distinct variability in diameter; some fibrils are larger and irregular in outline (arrowhead). B, On the longitudinal section (28,400×), the deposition of granulofilamentous material along the collagen fibrils is visible (arrowhead). In some foci, collagen fibrils have an unraveled and disorganized aspect (arrow). The American Journal of Human Genetics 2000 66, 1398-1402DOI: (10.1086/302859) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 2 SDS-PAGE of radiolabeled, pepsin-digested collagens from the medium (left) and the cell layer (right), produced by the fibroblasts of patient 1. The pattern of the medium collagens is comparable to that of controls. In the cell layer, a population of dimeric collagen α-chains is seen (arrow) that disappears after reduction. P = patient 1; N = control samples. The American Journal of Human Genetics 2000 66, 1398-1402DOI: (10.1086/302859) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 3 Sequencing data from patient 1 representing the normal (upper panel) and the mutant (lower panel) COL1A1 allele. A C→T transition changes the codon for arginine (CGC), in position 134 of the proα1(I) collagen chain, to the codon for cysteine (TGC). The American Journal of Human Genetics 2000 66, 1398-1402DOI: (10.1086/302859) Copyright © 2000 The American Society of Human Genetics Terms and Conditions