The genes EDAR and EDARADD are known to be associated with both autosomal dominant and recessive forms of HED, and mutations in these genes account for the other 5% of HED.[9] In the present study, we report a novel missense mutation (EDA1 c.1046C>T), as well as 3 previously-reported missense mutations in four Chinese Han XLHED families. The gene discussed is EDA; the disease is X-linked hypohidrotic ectodermal dysplasia.