A novel frameshift truncation mutation in the V2 tail domain of KRT1 causes mild ichthyosis hystrix of Curth–Macklin. (10th April 2020)

• Record Type: Journal Article
• Authors: Yang, Z.; Xu, Z.; Zhang, N.; Ma, L.
• Is Part Of: Clinical and experimental dermatology. Volume 45:Number 6(2020)
• Page Start: 719
• Page End: 721
• Publication Date: 2020-04-10
• Subjects: Skin -- Diseases -- Periodicals; 616.5
• DOI: 10.1111/ced.14193
• Languages: English
• ISSNs: 0307-6938

Abstract

Summary: Ichthyosis hystrix, Curth–Macklin type (IHCM) is an extremely rare autosomal dominant dermatosis caused by mutations in the keratin genes, KRT1 or KRT10, which often manifests as extensive, dark, spiky or verrucous plaques and severe palmoplantar keratoderma. We report a novel frameshift truncation mutation, c.1596_1597insAT (p.Gly533Metfs*82) in exon 7 (V2 tail domain) of KRT1, which, by replacing the glycine–serine‐rich tail of KRT1 with a series of 75 alanine‐rich amino acids, produces a mild IHCM phenotype. The patient with the mutation presented with localized ichthyosis and progressive hyperkeratosis of the palms and soles with no history of blistering.