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 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.
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Authors | K Becker, M Csikós, M Sárdy, Z S Szalai, A Horváth, S Kárpáti |
Journal | Experimental dermatology
(Exp Dermatol)
Vol. 12
Issue 3
Pg. 324-9
(Jun 2003)
ISSN: 0906-6705 [Print] Denmark |
PMID | 12823447
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Codon, Nonsense
- Transglutaminases
- transglutaminase 1
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Topics |
- Child
- Child, Preschool
- Codon, Nonsense
- DNA Mutational Analysis
- Humans
- Hungary
- Ichthyosiform Erythroderma, Congenital
(genetics)
- Male
- Transglutaminases
(genetics)
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