title: Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis.
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.
authors.affiliation: IDI-IRCCS c/o Department of Experimental Medicine and Surgery, University of Tor Vergata, Rome, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Terrinoni
authors.forename: V
authors.initials: V
authors.lastname: Serra
authors.forename: A
authors.initials: A
authors.lastname: Codispoti
authors.forename: E
authors.initials: E
authors.lastname: Talamonti
authors.forename: L
authors.initials: L
authors.lastname: Bui
authors.forename: R
authors.initials: R
authors.lastname: Palombo
authors.forename: M
authors.initials: M
authors.lastname: Sette
authors.forename: E
authors.initials: E
authors.lastname: Campione
authors.forename: B
authors.initials: B
authors.lastname: Didona
authors.forename: M
authors.initials: M
authors.lastname: Annicchiarico-Petruzzelli
authors.forename: G
authors.initials: G
authors.lastname: Zambruno
authors.forename: G
authors.initials: G
authors.lastname: Melino
authors.forename: E
authors.initials: E
authors.lastname: Candi
mesh_terms: D018389:Codon, Nonsense / Q000235:genetics; D005091:Exons; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000201:enzymology* / Q000235:genetics*; D009154:Mutation; D020125:Mutation, Missense; D017354:Point Mutation; D017434:Protein Structure, Tertiary; D012326:RNA Splicing; D011503:Transglutaminases / Q000737:chemistry / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D011503:Transglutaminases; C105804:transglutaminase 1