A usual frameshift and delayed termination codon mutation in keratin 5 causes a novel type of epidermolysis bullosa simplex with migratory circinate erythema

Li Hong Gu, SooChan Kim, Yoshiro Ichiki, Junsu Park, Miki Nagai, Yasuo Kitajima

Research output: Contribution to journalArticle

41 Citations (Scopus)

Abstract

We report here two unrelated families in Japan and Korea having patients with a unique type of epidermolysis bullosa simplex and a novel mutation in the keratin gene KRT5, i.e., a frameshift and delayed stop codon inconsistent with any subtype described before. The patients showed migratory circinate erythema and multiple vesicles on the circular belt-like areas affected by erythema. Electron microscopy of skin biopsies showed a reduction in the number of keratin intermediate filaments in the basal cells without tonofilament clumping. We identified a novel heterozygous deletion mutation (1649delG of KRT5) in both cases. This deletion is predicted to produce a mutant keratin 5 protein with a frameshift of its terminal 41 amino acids and 35 amino acids longer than the wild-type keratin 5 protein due to a delayed termination codon. As the same abnormal elongated mutant KRT5 gene was found in the independent families, the predicted abnormal elongated keratin protein is likely to lead to an atypical clinical phenotype that has never been reported, possibly by interfering with the functional interaction between keratin and its associated proteins.

Original languageEnglish
Pages (from-to)482-485
Number of pages4
JournalJournal of Investigative Dermatology
Volume121
Issue number3
DOIs
Publication statusPublished - 2003 Sep 1

Fingerprint

Keratin-5
Terminator Codon
Keratins
Mutation
Intermediate Filaments
Erythema
Epidermolysis Bullosa Simplex
Genes
Amino Acids
Proteins
Biopsy
Sequence Deletion
Korea
Electron microscopy
Electron Microscopy
Skin
Japan
Cells
Phenotype
Epidermolysis Bullosa Simplex with Migratory Circinate Erythema

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Molecular Biology
  • Dermatology
  • Cell Biology

Cite this

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abstract = "We report here two unrelated families in Japan and Korea having patients with a unique type of epidermolysis bullosa simplex and a novel mutation in the keratin gene KRT5, i.e., a frameshift and delayed stop codon inconsistent with any subtype described before. The patients showed migratory circinate erythema and multiple vesicles on the circular belt-like areas affected by erythema. Electron microscopy of skin biopsies showed a reduction in the number of keratin intermediate filaments in the basal cells without tonofilament clumping. We identified a novel heterozygous deletion mutation (1649delG of KRT5) in both cases. This deletion is predicted to produce a mutant keratin 5 protein with a frameshift of its terminal 41 amino acids and 35 amino acids longer than the wild-type keratin 5 protein due to a delayed termination codon. As the same abnormal elongated mutant KRT5 gene was found in the independent families, the predicted abnormal elongated keratin protein is likely to lead to an atypical clinical phenotype that has never been reported, possibly by interfering with the functional interaction between keratin and its associated proteins.",
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A usual frameshift and delayed termination codon mutation in keratin 5 causes a novel type of epidermolysis bullosa simplex with migratory circinate erythema. / Gu, Li Hong; Kim, SooChan; Ichiki, Yoshiro; Park, Junsu; Nagai, Miki; Kitajima, Yasuo.

In: Journal of Investigative Dermatology, Vol. 121, No. 3, 01.09.2003, p. 482-485.

Research output: Contribution to journalArticle

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