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Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia

Background  Hypohidrotic ectodermal dysplasia (HED) is a human heritable disorder characterized by sparse hair, a lack of sweat glands and malformation of teeth. There are X‐linked, autosomal recessive and autosomal dominant forms of this disorder. Mutations in the EDA gene cause X‐linked HED and mutations in either the EDAR or the EDARADD genes cause autosomal forms of HED.