Evidence Against Keratin Gene Mutations in a Family with Ichthyosis Hystrix Curth-Macklin

Ichthyosis hystrix Curth-Macklin is a rare autosomal dominant disease characterized clinically by hyperkeratosis and ultrastructurally by disruption of the keratin intermediate filament network of suprabasal keratinocytes. We have used linkage analysis to test whether a keratin gene mutation might underlie this disease. This analysis excluded the keratin gene loci as the sites for the disease-causing mutation in one affected kindred.