Keratin gene mutation in a pedigree of Dowling-Meara epidermolysis bullosa simplex

Objective: To investigate the gene mutation in a pedigree of Dowling-Meara Epidermolysis Bullosa Simplex （EBS）, confirm the type of EBS. Mehtods: The all exons of K5 and K14 gene of genomic DNA from patientsperipheral blood were amplified by PCR, and than PCR products were purified and sequenced. Result: The mutation R125C was identified in exon 1 of K14. The two patients （mother and daughter） had the same mutation;the unaffected father did not. Conclusions: The gene sequence analysis is the best method for confirming diagnoses in this kind of patient and illustrate the usefulness of keratin mutation screening to distinguish the phenotype of EBS-DM.