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Springer Nature [academic journals on nature.com], Cell Death and Disease, 10(3), p. e416-e416, 2012

DOI: 10.1038/cddis.2012.152

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Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis

Journal article published in 2012 by A. Terrinoni, V. Serra, A. Codispoti, E. Talamonti, L. Bui, R. Palombo, M. Sette, E. Campione, B. Didona, M. Annicchiarico-Petruzzelli ORCID, G. Zambruno, G. Melino, E. Candi
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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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.