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.
Bonifas
J M
JM
Department of Dermatology, University of California School of Medicine, San Francisco.
Bare
J W
JW
Chen
M A
MA
Ranki
A
A
Neimi
K M
KM
Epstein
E H
EH
D002881:Chromosomes, Human, Pair 12; D005192:Family Health; D005260:Female; D006801:Humans; D007057:Ichthyosis / Q000235:genetics*; D007633:Keratins / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree
D007633:Keratins