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.
Terrinoni, A., Serra, V., Codispoti, A., Talamonti, E., Bui, L., Palombo, R., et al. (2012). Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis. CELL DEATH & DISEASE, 3, e416-e416 [10.1038/cddis.2012.152].
Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis
Terrinoni, A;SETTE, MARCO;Campione, E;MELINO, GENNARO;CANDI, ELEONORA
2012-01-01
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.File | Dimensione | Formato | |
---|---|---|---|
Terrinoni.pdf
accesso aperto
Descrizione: Articolo principale
Dimensione
568.13 kB
Formato
Unknown
|
568.13 kB | Unknown | Visualizza/Apri |
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.