Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis

• DOI: 10.1038/cddis.2012.152
• Publication Date: 2012-10-25T10:08:01Z
• Authors: A Terrinoni; V Serra; A Codispoti; E Talamonti; L Bui; R Palombo; M Sette; E Campione; B Didona; M Annicchiarico-P...; G Zambruno; G Melino; E Candi
• Keywords: Lamellar ichthyosis; Nonsense mutation; Transversion; Congenital ichthyosis; Tissue transglutaminase; Compound heterozygosity

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