Mutational spectrum of EDA and EDAR genes in a cohort of Mexican mestizo patients with hypohidrotic ectodermal dysplasia

Abstract

Hypohidrotic ectodermal dysplasia (HED) has a prevalence of 1:5,000-10,000 newborns and it is characterized by hypotrichosis and abnormalities in teeth and sweat glands.¹ Most patients have an X-linked (XLHED) pattern of inheritance due to mutations in EDA which encodes for ectodysplasin. In addition, three HED-associated autosomal genes are known: EDAR which encodes for an ectodysplasin receptor; EDARADD corresponding to a cytoplasmic adaptor molecule and WNT10A which encodes for a signaling molecule of the WNT/β-catenin pathway.^1-4

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