Expanding the Mutation Spectrum of Ichthyosis with Confetti.
Ichthyosis with confetti is a rare, autosomal dominant disorder caused by frameshift mutations in KRT10 or KRT1 and characterized by the development of white, genetically revertant macules in red, diseased skin. All cases result from mutations affecting the tail domains of keratin-10 or keratin-1, and Suzuki et al. expand the mutation spectrum for ichthyosis with confetti caused by mutations in KRT1, showing that a polyarginine frameshift in the keratin-1 tail can also cause this disorder.
Department of Dermatology, Yale University School of Medicine, New Haven, Connecticut, USA; Department of Pathology, Yale University School of Medicine, New Haven, Connecticut, USA; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.
Young H
YH
Lim
Department of Dermatology, Yale University School of Medicine, New Haven, Connecticut, USA; Department of Pathology, Yale University School of Medicine, New Haven, Connecticut, USA; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA. Electronic address: keith.choate@yale.edu.
Keith A
KA
Choate
D006801:Humans; D007057:Ichthyosis / Q000235:genetics*; D017490:Ichthyosis, Lamellar; D053556:Keratin-1 / Q000235:genetics; D053550:Keratin-10 / Q000235:genetics*; D009154:Mutation
D053556:Keratin-1; D053550:Keratin-10
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