Abstract
We have previously reported a now 23-year-old patient with a long history of bleeding due to dominantly inherited Ehlers-Danlos syndrome type IV (“vascular” type) whose fibroblasts produced a structurally abnormal type III collagen with shortened triple-helical structure (Superti-Furga et al., Pediat Res 20:1043, 1986). Immunoblot analysis of protoalpha1(III) chains in his fibroblasts identified a normal-sized species and an additional species of lower molecular weight. Similarly, Northern blots probed with cDNAs for type III collagen showed equal quantities of a normal and a mutant mRNA for type III collagen, the mutant mRNA being 600 bp shorter than the normal one. Southern blots probed with genomic clones for type III collagen showed an abnormal pattern, best explained by a multi-exon deletion of approx. 3 kb in the middle of the gene, within the triple-helical coding region. This is the first description of a mutation in the human alpha1(III) collagen gene.
(Genomic clones courtesy of Dr.F.Ramirez, SUNY Medical School, New York, USA)
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Superti-Furga, A., Gitzelmann, R. & Steinmann, B. A DELETION IN ONE PRO-ALPHA1 (III) COLLAGEN GENE IN EHLERS-DANLOS SYNDROME TYPE IV. Pediatr Res 22, 238 (1987). https://doi.org/10.1203/00006450-198708000-00150
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DOI: https://doi.org/10.1203/00006450-198708000-00150