Identification of two novel nonsense mutations in the transglutaminase 1 gene in a Hungarian patient with congenital ichthyosiform erythroderma

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Abstract

Congenital ichthyosiform erythroderma (CIE) belongs together with lamellar ichthyosis (LI) to the group of autosomal recessive congenital ichthyoses (ARCI). Mutations in the transglutaminase (TGase) 1 gene (TGM1) have been identified in several families with LI and in some families with CIE. We report a case of CIE with two new nonsense mutations: a C7780G transversion in exon 11 resulting in a premature stop codon at aminoacid residue Y503X and a C8533G transversion in exon 13 leading to a nonsense mutation at S669X. These mutations were also identified hi a heterozygous pattern in the unaffected parents. These two termination-codons result in the translation of a truncated protein at the C-terminal end domain of the TGM 1 molecule. B.C1 monoclonal antibody failed to detect TGase 1 in the patient's skin sample, and TGase activity measured by monodansyl cadaverine-incorporation showed the reduced TGase activity at the distribution of TGase 1 in the epidermis.

Original languageEnglish
Pages (from-to)324-329
Number of pages6
JournalExperimental Dermatology
Volume12
Issue number3
DOIs
Publication statusPublished - Jun 1 2003

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Keywords

  • Congenital ichthyosiform erythroderma
  • Genodermatosis
  • Mutation
  • TGM1 gene
  • Transglutaminase 1

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Dermatology

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