Abstract:

【Abstract】　Objective　To identify K5 gene mutation in a pedigree with Weber-Cockayne type epidermolysis bullosa simplex (EBS) so as to provide a basis for the genetic diagnosis and counseling of EBS. Methods　A pedigree of Weber-Cockayne type EBS was investigated. Mutation scanning of K5 gene was carried out by PCR and direct DNA sequencing. K5 gene of 50 unralated normal people were also sequenced as control. The mutation was confirmed by restriction fragment length polymorphism. Results　A missense mutation I161S of the K5 gene was found in all patients with Weber-Cockayne type EBS, but was not found in normal individuals in the pedigree and 50 unrelated controls.Conclusion A missense mutation I161S of the K5 gene is the cause of the phenotype in this pedigree.

Key words: epidermolysis bullosa simplex, 　K5 gene, 　mutation