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Identification of two novel nonsense mutations in the transglutaminase 1 gene in a Hungarian patient with congenital ichthyosiform erythroderma
Author(s) -
Becker K.,
Csikós M.,
Sárdy M.,
Szalai ZS.,
Horváth A.,
Kárpáti S.
Publication year - 2003
Publication title -
experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.108
H-Index - 96
eISSN - 1600-0625
pISSN - 0906-6705
DOI - 10.1034/j.1600-0625.2003.120313.x
Subject(s) - lamellar ichthyosis , nonsense mutation , transversion , exon , ichthyosis , missense mutation , genetics , plectin , congenital ichthyosis , microbiology and biotechnology , biology , hyperkeratosis , stop codon , compound heterozygosity , mutation , gene , cell , intermediate filament , cytoskeleton
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 in 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.