Analysis of Genetic and Clinical Features in Three Chinese Pedigrees with Hypohidrotic Ectodermal Dysplasia

Objective: To analyze genetic and clinical features of three Chinese pedigrees with hypohidrotic ectodermal dysplasia.Methods: Three pedigrees collected by the identified probands were investigated through clinical examination and pedigree analysis.Results: Of the three families recruited,two were transmitted in X-linked recessive manner,the inheritance mode of the remaining one was uncertain.HED males patients had characteristic features,while obligated carriers had mild to moderate exhibition.Some even had no clinical symptom.The expressivity is variable as the differences among pedigrees were very evident.Conclusion: HED with high penetrance and variable expressivity was highly heterogeneous.