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Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis.

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.[1]

References

  1. Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis. Terrinoni, A., Serra, V., Codispoti, A., Talamonti, E., Bui, L., Palombo, R., Sette, M., Campione, E., Didona, B., Annicchiarico-Petruzzelli, M., Zambruno, G., Melino, G., Candi, E. Cell. Death. Dis (2012) [Pubmed]
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