Detection Of GJB2Gene Mutation In A Family With Vohwinkel Syndrome

Background Vohwinkel syndrome, also known as Mutilanting Palmoplantar Keratoderma, is a rare autosomal dominant inherited skin disease. It presents with several cutaneous manifestations, such as diffuse hyperkeratosis of palms and soles with a honeycomb appearance, starfish-like keratoses and constriction bands leading to autoamputation of the digits (pseudoainhum) and is mostly reported to associated with the mutations in GJB2gene, which encodes connexin26(Cx26), a component of intercellular gap junctions and LOR gene, which encodes loricrin. We now report on a GJB2gene mutation in a Chinese family with Vohwinkel syndrome and sensorineural deafness as originally described. To the best of our knowledge, this is the first to suggest that the D66H mutation in GJB2gene is involved in the etiology of Chinese VS with deafness Pedigree.Objective To detect the mutation of GJB2gene in a Chinese family with Vohwinkel syndrome and deafness.Methods The pedigree members’ clinical data and blood samples were collected from5affected patients and4unaffected individuals in the family and100healthy controls. Genomic DNA was extracted from blood samples. Polymerase chain reaction (PCR) was carried out to amplify the entire encoding and flanking sequence of GJB2gene and followed by bidirectional sequencing. Finally, the mutation analysis was processed by Sequencher4.10.1Demo software.Results A heterozygous missense mutation196Gâ†'C in the GJB2gene, which result in the substitution of Aspartic Acid by histidine at codon66(D66H) on the first terminal of the protein, was find out in all patient of this family, but in none of the4normal individuals in this family and100healthy controls.Conclusions An D66H missense mutation in the Cx26gene can also cause Vohwinkel syndrome wih deafness in Chinese Han population.