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A novel mutation in the 2B domain of keratin 2e causing ichthyosis bullosa of Siemens
Author(s) -
Irvine A. D.,
Smith F. J. D.,
Shum K. W.,
Williams H. C.,
McLean W. H. I.
Publication year - 2000
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 - 10.1046/j.1365-2230.2000.00728.x
Subject(s) - epidermolytic hyperkeratosis , hyperkeratosis , ichthyosis , keratin , mutation , erythroderma , palmoplantar keratoderma , dyskeratosis , lamellar ichthyosis , dermatology , exon , epidermis (zoology) , medicine , pathology , biology , genetics , gene , anatomy
Ichthyosis bullosa of Siemens (IBS; MIM: 146800) is an autosomal dominant disorder of keratinization characterized by epidermolytic hyperkeratosis without erythroderma. The clinical features are less marked than those of bullous congenital ichthyosiform erythroderma with relatively mild hyperkeratosis usually limited to the skin flexures. Mutations in the epithelial cytokeratin 2e (K2e), which is expressed in a differentiation‐specific fashion in the upper spinous and granular layers of the epidermis, have been shown to cause IBS. We detected a novel mutation in a three generation kindred with IBS (1448T→A) within exon 7 of the KRT2E gene. This is predictive of an I483N substitution in the 2B domain of K2e. This extends the range of mutations reported to date and illustrates the usefulness of molecular genetics in the diagnosis of this disorder.