Articles | Volume 49, issue 6
10 Oct 2006
 | 10 Oct 2006

A novel mutation in the bovine EDA gene causing anhidrotic ectodermal dysplasia (Brief report)

C. Drögemüller, C. S. Barlund, C. W. Palmer, and T. Leeb

Abstract. X-linked anhidrotic ectodermal dysplasia (EDA), also called hypohidrotic ectodermal dysplasia (HED), represents a group of similar phenotypes described in humans, the tabby mouse mutant, dog, and cattle (KERE et al., 1996; SRIVASTAVA et al., 1997; CASAL et al., 2005; DRÖGEMÜLLER et al., 2001, 2002). EDA is characterised by the hypoplasia or absence of hair and eccrine glands in addition to dental abnormalities. Ectodysplasin A1 and A2, the two isoforms encoded by the EDA gene, are transmembrane protein members of the tumor necrosis factor (TNF) family and deleterious mutations in the human, murine, canine, and bovine EDA gene, respectively, result in manifestations of EDA.