Abstract:

Objective To detect the mutation of GJB2 gene in a Chinese family with Vohwinkel syndrome. Methods Clinical data were collected from 5 patients with Vohwinkel syndrome in a family, and blood samples were obtained from the 5 patients and 4 unaffected individuals in the family as well as from 100 normal human controls. Genomic DNA was extracted and subjected to PCR for the amplification of the entire encoding and flanking sequences of GJB2 gene （1015 bp） followed by bidirectional sequencing with the ABI PRISM 3730 automatic DNA sequencer. Finally, sequence alignment was carried out by using the software Sequencher 4.10.1 Demo. Results A heterozygous missense mutation 196G→C in the GJB2 gene, which resulted in the substitution of aspartic acid by histidine at codon 66 （D66H） in the first extracellular domain of the protein, was observed in all the patients of this family, but in none of the 4 unaffected individuals in this family or the 100 normal human controls. Conclusion The D66H missense mutation in the GJB2 gene may contribute to the occurrence of Vohwinkel syndrome in Chinese Han population.

Key words: Mutation