Thesis (Ph.D.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology

Background: Dystrophic epidermolysis bullosa is a rare heritable skin disorder characterized by trauma- induced blistering and scarring. DEB is caused by mutation in the gene encoding type VII collagen (COL7A1). It is transmitted either in dominant (DDEB) or recessive (RDEB) mode. More than 730 different COL7A1 mutations have been identified in DEB. It has been described that approximately 75% of the DEB mutations occur in exons 73, 74 and 75. Objectives: To screen exons 73, 74 and 75 of COL7A1 gene, harboring majority of mutations (or hot-spot exons for mutation), in Egyptian patients with DEB. Results: In this study we identified one novel mutation (G2055R) in one family, this mutation was detected in exon73. This patient was homozygous for the mutation and the parents were heterozygote for the same mutation. Conclusion: The present study is the first molecular diagnostic report from Egypt. Study of whole COL7A1 gene is recommended to detect types and frequencies of COL7A1 gene mutations in Egyptian patients suffering from DEB. This study reveals novel disease-causing mutations in the COL7A1 gene

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