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Article

Hot spot mutations in keratin 2e suggest a correlation between genotype and phenotype in patients with ichthyosis bullosa of Siemens.

Experimental dermatology - 1 Feb 2000

Suga Y, Arin M J, Scott G, Goldsmith L A, Magro C M, Baden L A, Baden H P, Roop D R

Abstract excerpt

Ichthyosis bullosa of Siemens (IBS) is a rare disorder of cornification characterized by blister formation in the upper suprabasal layers of the epidermis. Molecular analysis of IBS has identified mutations in the keratin 2e (K2e) gene, which is located in the type II keratin gene cluster on chromosome 12q. We have studied two IBS families and have identified heterozygous point mutations in codon 493 of the K2e...

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Identifiers

PMID: 10688369
DOI: 10.1034/j.1600-0625.2000.009001011.x

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Hot spot mutations in keratin 2e suggest a correlation between genotype and phenotype in patients with ichthyosis bullosa of Siemens.PMID 10688369Read ↗

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Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literatureSemantic proximity Read ↗

Ichthyosis bullosa of Siemens is caused by mutations in the keratin 2e gene.Semantic proximity Read ↗

Genomic organization and fine mapping of the keratin 2e gene (KRT2E): K2e V1 domain polymorphism and novel mutations in ichthyosis bullosa of Siemens.Semantic proximity Read ↗

A novel asparagine-->aspartic acid mutation in the rod 1A domain in keratin 2e in a Japanese family with ichthyosis bullosa of Siemens.Semantic proximity Read ↗

Disturbed keratin expression and distinct genotype of ichthyosis hystrix Lambert type.Semantic proximity Read ↗

An atypical form of bullous congenital ichthyosiform erythroderma is caused by a mutation in the L12 linker region of keratin 1.Semantic proximity Read ↗

Ichthyosis bullosa of Siemens: further delineation of the phenotype.Semantic proximity Read ↗

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