Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis

Cell Death Dis. 2012 Oct 25;3(10):e416. doi: 10.1038/cddis.2012.152.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Codon, Nonsense / genetics
  • Exons
  • Humans
  • Ichthyosis, Lamellar / enzymology*
  • Ichthyosis, Lamellar / genetics*
  • Mutation*
  • Mutation, Missense
  • Point Mutation
  • Protein Structure, Tertiary
  • RNA Splicing
  • Transglutaminases / chemistry
  • Transglutaminases / genetics*


  • Codon, Nonsense
  • Transglutaminases
  • transglutaminase 1