Abstract:

Objective To detect the mutations of GJB3 and GJB4 genes in two sporadic cases of erythrokeratodermia variabilis （EKV）. Methods Genomic DNA was extracted from two sporadic patients with EKV, their family members, and 100 normal human controls. All the exons and adjacent splice sites of GJB3 and GJB4 genes were amplified by PCR. Mutation scanning was carried out via direct bidirectional DNA sequencing. Results A G134C mutation was found at the GJB3 gene in patient 1, which caused a substitution of glycine by alanine at codon 45 （G45A）. No mutation was found in the GJB4 gene in case 1 or GJB3 and GJB4 genes in case 2. Conclusion A missence mutation G45A in GJB3 gene is found in a patient with EKV.

Key words: Mutation