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

Autor:	Miklós Sárdy, Sarolta Kárpáti, Márta Csikós, Attila Horváth, Szalai Zs, Krisztina Becker
Rok vydání:	2003
Předmět:	Genetics Mutation Congenital ichthyosiform erythroderma integumentary system Nonsense mutation Genodermatosis Dermatology Biology Lamellar ichthyosis medicine.disease medicine.disease_cause Biochemistry Exon medicine Transversion Molecular Biology Gene
Zdroj:	Experimental Dermatology. 12:324-329
ISSN:	0906-6705
DOI:	10.1034/j.1600-0625.2003.120313.x
Popis:	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.
Databáze:	OpenAIRE
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