Two EDA Gene Mutations in Chinese Patients with Hypohidrotic Ectodermal Dysplasia

Abstract

Hypohidrotic (anhidrotic) ectodermal dysplasia (HED) is an inherited disorder and generally characterized by the diminution or absence of eccrine sweat glands, oligodontia, peg shaped teeth, and sparse hair.¹ X-linked Hypohidrotic (anhidrotic) ectodermal dysplasia (XLHED) is the most frequent inheritance patterns, though in some cases autosomal dominant and recessive inheritance patterns were also reported.^2,3 4 genes (EDA, EDAR, EDARADD and WNT10A) account for more than 90% of HED cases and the mutations in Ectodysplasin-A (EDA) gene are the most prevalent (58%).⁴

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