Research article

EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families

Lisbet K Lind¹ , Christina Stecksén-Blicks² , Kristina Lejon¹ and Marcus Schmitt-Egenolf³

¹  Department of Medical Biosciences, Medical and Clinical Genetics, Umeå University, SE-901 85 Umeå, Sweden

²  Department of Odontology, Pediatric Dentistry, Umeå University, SE-901 85 Umeå, Sweden

³  Department of Public Health and Clinical Medicine, Dermatology and Venereology, Umeå University, SE-901 85 Umeå, Sweden

author email corresponding author email

BMC Medical Genetics 2006, 7:80doi:10.1186/1471-2350-7-80

Published:	24 November 2006

Abstract

Background

Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder characterized by defective development of teeth, hair, nails and eccrine sweat glands. Both autosomal dominant and autosomal recessive forms of HED have previously been linked to mutations in the ectodysplasin 1 anhidrotic receptor (EDAR) protein that plays an important role during embryogenesis.

Methods

The coding DNA sequence of the EDAR gene was analyzed in two large Swedish three-generational families with autosomal dominant HED.

Results

A non-sense C to T mutation in exon 12 was identified in both families. This disease-specific mutation changes an arginine amino acid in position 358 of the EDAR protein into a stop codon (p.Arg358X), thereby truncating the protein. In addition to the causative mutation two polymorphisms, not associated with the HED disorder, were also found in the EDAR gene.

Conclusion

The finding of the p.Arg358X mutation in the Swedish families is the first corroboration of a previously described observation in an American family. Thus, our study strengthens the role of this particular mutation in the aetiology of autosomal dominant HED and confirms the importance of EDAR for the development of HED.