title: Identification of two novel nonsense mutations in the transglutaminase 1 gene in a Hungarian patient with congenital ichthyosiform erythroderma.
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.
authors.affiliation: Department of Dermatology, Semmelweis University, Budapest, Hungary. becker@bor.sote.hu
authors.forename: K
authors.initials: K
authors.lastname: Becker
authors.forename: M
authors.initials: M
authors.lastname: Csikós
authors.forename: M
authors.initials: M
authors.lastname: Sárdy
authors.forename: Z S
authors.initials: ZS
authors.lastname: Szalai
authors.forename: A
authors.initials: A
authors.lastname: Horváth
authors.forename: S
authors.initials: S
authors.lastname: Kárpáti
mesh_terms: D002648:Child; D002675:Child, Preschool; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D006801:Humans; D006814:Hungary; D016113:Ichthyosiform Erythroderma, Congenital / Q000235:genetics*; D008297:Male; D011503:Transglutaminases / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D011503:Transglutaminases; C105804:transglutaminase 1