Null Alleles of the COL5A1 Gene of Type V Collagen Are a Cause of the Classical Forms of Ehlers-Danlos Syndrome (Types I and II) Ulrike Schwarze, Mary.

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Null Alleles of the COL5A1 Gene of Type V Collagen Are a Cause of the Classical Forms of Ehlers-Danlos Syndrome (Types I and II) Ulrike Schwarze, Mary Atkinson, Guy G. Hoffman, Daniel S. Greenspan, Peter H. Byers The American Journal of Human Genetics Volume 66, Issue 6, Pages 1757-1765 (June 2000) DOI: 10.1086/302933 Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 1 Demonstration of loss of heterozygosity, for one allele of the COL5A1 gene, in fibroblasts from six patients with EDS type I or II. A, Heterozygosity for the exon 5 PstI polymorphic site in the genomic DNA (left) of patients P8 and P11. In the cDNA from patient P8, a small amount of the (−) allele is apparent and is probably enhanced by heteroduplex formation. The cDNA from patient P11 contained only the (−) allele. B, Heterozygosity for the exon 66 DpnII polymorphic site in the genomic DNA (left) of patients P4 and P6. In the cDNA (right) from patient P4, a small amount of the (+) allele was apparent, but none was apparent in the sample from patient P6. C, Heterozygosity for the exon 66 BstUI polymorphic site in the genomic DNA (left) of patients P10 and P1. When cDNA amplified with the use of primers in exons 65 and 66 was digested with the enzyme, only the (−) allele was stable from both patients. The American Journal of Human Genetics 2000 66, 1757-1765DOI: (10.1086/302933) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 2 Amplification of the coding regions encompassed by exons 13–31 of the COL5A1 gene, from a control individual and from one patient (patient P16). In the cDNA from patient P16, a lighter band is seen that migrates faster than the normal band; in addition, a faint heteroduplex (designated by “H”) is also apparent. The American Journal of Human Genetics 2000 66, 1757-1765DOI: (10.1086/302933) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 3 Mutations identified in genomic DNA from five patients in whom one COL5A1 allele was not stable in mRNA. The American Journal of Human Genetics 2000 66, 1757-1765DOI: (10.1086/302933) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 4 A, Electron micrograph of collagen fibrils in skin from patient P10 (A), compared with fibril diameters of a sample from a control individual (B). The fibrils from the patient are larger and more irregular. In addition, there are composite fibrils (arrows). The American Journal of Human Genetics 2000 66, 1757-1765DOI: (10.1086/302933) Copyright © 2000 The American Society of Human Genetics Terms and Conditions