有汗性外胚层发育不良一家系基因突变

目的 探讨有汗性外胚层发育不良家系的基因突变及突变类型，为建立本病的基因诊断与遗传咨询提供依据。方法 PCR及Sanger测序技术对有汗性外胚层发育不良家系先证者GJB6基因外显子进行突变鉴定，对可疑的变异位点， Sanger测序检测家系其他成员该位点变异情况。结果 基因检测结果表明，家系先症者GJB6基因错义突变c.31G〉A，该突变导致连接蛋白-30（connexin-30, CX-30）第11位氨基酸由甘氨酸变成精氨酸（p.G11R）。家系的患者均携带此变异，而家系表型正常的个体不携带此变异。结论 GJB6基因c.31G〉A（p.G11R）突变是该有汗性外胚层发育不良家系致病基因突变。

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

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.