A Mutation in the Connexin30Gene in a Pedigree with Hidrotic Ectodermal Dysplasia / 中华皮肤科杂志

Objective To analyses the mutation of connexin30gene in a pedigree with hidrotic ec-todermal dysplasia(HED).Methods Blood samples were obtained from18affected and16normal individ-uals in this family.Mutation scanning was carried out by PCR and direct sequencing.Results A transition,at position on connexin30gene31(G→A),leading to a missense mutation(G11R),was detected in18patients,but was not found in16normal individuals in this HED family and in188unrelated,population-matched control individuals,which indicated that it did not represent common polymorphism.Conclusion A missense mutation(31G→A)in the connexin30gene has been determined in the pedigree with HED,which is probably one of the molecular bases of the pathogenesis of the disease.