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

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 causati

SUBMITTER: Lind LK 

PROVIDER: S-EPMC1684249 | biostudies-literature | 2006 Nov

REPOSITORIES: biostudies-literature