A Novel Splicesite Mutation in the Edar Gene Causes Severe Autosomal Recessive Hypohydrotic (Anhidrotic) Ectodermal Dysplasia in An Iranian Family

Hypohidrotic ectodermal dysplasia (hed) is a rare congenital disorder arising from deficient development of ectoderm-derived structures including skin, nails, glands and teeth. the phenotype of hed is associated with mutation in eda, edar, edaradd and nemo genes, all of them disruptingnf-
b signaling cascade necessary for initiation, formation and differentiation in the embryo and adult. here we describe a novel acceptor splice site mutation c.730-2 a>g(ivs 8-2 a>g) in edar gene in homozygous form in all affected members of a family,and in heterozygous form in carriers. bioinformatics analysis showed that this mutation can create a new broken splicing site and lead to aberrant splicing.