295 Genotype-phenotype correlation analysis in recessive dystrophic epidermolysis bullosa using in situ germline mouse genome editing technique

Abstract

Recessive dystrophic epidermolysis bullosa (RDEB) is an intractable skin genetic disease characterized by the skin fragility leading to the recurrent blistering. The mutations in COL7A1 gene, encoding type VII collagen (C7) that forms anchoring fibrils, cause RDEB. RDEB patients are known to show variable prognosis, likely influenced by the position of pathogenic mutations. However, as the mutations in COL7A1 gene distribute across the gene without any apparent hotspots and the majority of RDEB patients harbor the mutations in a compound heterozygous manner, the genotype-phenotype correlation is not fully elucidated.