Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis

A. Terrinoni, V. Serra, A. Codispoti, E. Talamonti, L. Bui, R. Palombo, M. Sette, E. Campione, B. Didona, M. Annicchiarico-Petruzzelli, G. Zambruno, G. Melino, E. Candi

Research output: Contribution to journalArticle

Abstract

Lamellar Ichthyosis (LI) is a form of congenital ichthyosis that is caused by mutations in the TGM1 gene that encodes for the transglutaminase 1 (TG1) enzyme. Functional inactivation of TG1 could be due to mutations, deletion or insertions. In this study, we have screened 16 patients affected by LI and found six new mutations: two transition/transversion (R37G, V112A), two nonsense mutations and two putative splice site both leading to a premature stop codon. The mutations are localized in exons 2 (N-terminal domain), 5, 11 (central catalytic domain), and none is located in the two beta-barrel C-terminal domains. In conclusion, this study expands the current knowledge on TGM1 mutation spectrum, increasing the characterization of mutations would provide more accurate prenatal genetic counselling for parents at-risk individuals.

Original languageEnglish
Article numbere416
JournalCell Death and Disease
Volume3
Issue number10
DOIs
Publication statusPublished - Oct 2012

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Keywords

  • Differentiation
  • Ichthyosis
  • Keratinocytes
  • Mutation
  • Transglutaminase 1

ASJC Scopus subject areas

  • Cell Biology
  • Immunology
  • Cancer Research
  • Cellular and Molecular Neuroscience

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