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A novel frameshift truncation mutation in the V2 tail domain of KRT1 causes mild ichthyosis hystrix of Curth–Macklin
Author(s) -
Yang Z.,
Xu Z.,
Zhang N.,
Ma L.
Publication year - 2020
Publication title -
clinical and experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.587
H-Index - 78
eISSN - 1365-2230
pISSN - 0307-6938
DOI - 10.1111/ced.14193
Subject(s) - frameshift mutation , truncation (statistics) , mutation , dermatology , genetics , medicine , biology , mathematics , gene , statistics
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.