Mutation analysis of GJB6 gene in a Chinese family with hidrotic ectodermal dysplasia

Abstract

Objective To identify the mutation of GJB6 gene in a Chinese pedigree with hidrotic ectodermal dysplasia,in hope to provide information for genetic diagnosis and counseling.Methods Blood samples were collected from a 23-year-old male proband and his family members including three affected and four unaffected individuals.Genomic DNA was extracted from the samples,and PCR was performed to amplify all the exons of GJB6 gene of the proband followed by Sanger sequencing.Putative mutations were confirmed by duplicate PCR amplification and sequencing of the affected exons in the other family members.Results A missense mutation c.31G＞A (p.G11R) in GJB6,which leads to the substitution of highly conserved glycine (G) by arginine (R) at position 11 of the connexin-30 (CX-30) protein,was detected in all the affected family members,but not in any of the unaffected individuals.Conclusion Hidrotic ectodermal dysplasia in this family is likely to be caused by the missense mutation c.31G＞A(p.G11R) in GJB6 gene. Key words: Ectodermal dysplasia; Mutation; Genes; Connexin 30