MUTATION IN THE REGULATORY REGION OF THE EDA GENE COINCIDES WITH THE SYMPTOMS OF ANHIDROTIC ECTODERMAL DYSPLASIA

We have investigated a fragment of the regulatory region of the EDA ge ne in a patient with clinical symptoms of anhidrotic ectodermal dyspla sia (EDA), whose DNA sequence of exon 1 was normal. The single-strand conformation polymorphism (SSCP) analysis of PCR-amplified fragments o f the regulatory region of the EDA gene suggested a mutation localized within the fragment extending from nucleotide -571 to -182 upstream o f the 5' end of the cDNA. Sequence analysis of this fragment documente d an additional adenine in position -452, located 32 nucleotides upstr eam from the response element HK-1, a target for transcription factor LEF-1, involved in the differentiation of tissues of ectodermal and me sodermal origin. We postulate that this mutation might interfere with the transcription process of the EDA gene and might be responsible, at least in part, for the clinical symptoms of anhidrotic ectodermal dys plasia.