Abstract: Objective To identify C0L7Al gene mutations in a family of recessive dystrophic epidermolysis bullosa (RDEB). Methods PCR and direct DNA sequencing were used to determine the mutation sites and types. PCR using allele-specific oligonucleotide primers was performed to further identify the pathogenic cause of this disease. Results The patient examined in this study was a compound heterozygote for a S48P missense mutation in exon 2 and a 3625del 11 PTC mutation in exon 27, which was a novel combination of COL7Al mutations in RDEB. Conclusion The missense mutation and the nonsense mutation in COL7Al gene are underlying causes of the Hallopeau-Siemens variant of RDEB.

Key words: Epidermolysis bullosa dystrophica, Codon, nonsense, Mutation, missense