A compound heterozygous mutation in the EDAR gene in a Spanish family with autosomal recessive hypohidrotic ectodermal dysplasia.

Abstract excerpt

Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder characterised by sparse hair, lack of sweat glands and malformation of teeth. The X-linked form of the disease, caused by mutations in the EDA gene, represents the majority of HED cases. Autosomal forms result from mutations in either the EDAR or the EDARADD gene. The X-linked and autosomal forms are phenotypically indistinguishable. For the purpose of...

Topics

• Adult
• Anodontia
• DNA Mutational Analysis
• Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
• Ectodysplasins
• Edar Receptor
• Edar-Associated Death Domain Protein
• Family
• Female
• Heterozygote