A novel frameshift truncation mutation in the V2 tail domain of KRT1 causes mild ichthyosis hystrix of Curth-Macklin.

Abstract:

: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.

journal_name

Clin Exp Dermatol

authors

Yang Z,Xu Z,Zhang N,Ma L

doi

10.1111/ced.14193

subject

Has Abstract

pub_date

2020-08-01 00:00:00

pages

719-721

issue

6

eissn

0307-6938

issn

1365-2230

journal_volume

45

pub_type

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