LOCALIZATION OF THE GENE FOR DARIER DISEASE TO A 5-CM INTERVAL ON CHROMOSOME 12Q

Darier disease is an autosomal dominant abnormality of epidermal diffe rentiation characterized clinically by the presence of hyperkeratotic papules on the skin and histologically by the loss of cell cohesion an d by disorderly keratinization. Two groups recently found evidence tha t the gene whose mutations underlie this disease is located at chromos ome 12q23-q24.1, a site on chromosome 12 that clearly is distal to the type II keratin gene cluster. We report here evidence for sublocaliza tion to a 5-cM region of that site in an additional ten families of Eu ropean and Middle Eastern ancestry with a combined lod score in excess of 20.