Mutation analysis of GJB2 gene in a family with Vohwinkel syndrome

VernacularTitle:一残毁性掌跖角化病家系GJB2基因突变研究
Author: Zhanxiang WANG ; Nan CHEN ; Yali SONG ; Zhenying WANG ; Xiaoxuan GUO ; Li ZHANG
Publication Type:Journal Article
Keywords: Vohwinkel syndrome; Keratoderma,palmoplantar; Genes,GJB2; Mutation
From: Chinese Journal of Dermatology 2012;45(5):344-346
CountryChina
Language:Chinese
Abstract: ObjectiveTo detect the mutation of GJB2 gene in a Chinese family with Vohwinkel syndrome.MethodsClinical 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.ResultsA 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.ConclusionThe D66H missense mutation in the GJB2 gene may contribute to the occurrence of Vohwinkel syndrome in Chinese Han population.