Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis

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...

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Main Authors: 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
Format: Online
Language:English
Published: Nature Publishing Group 2012
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3481139/
id pubmed-3481139
recordtype oai_dc
spelling pubmed-34811392012-10-26 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 Original Article 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. Nature Publishing Group 2012-10 2012-10-25 /pmc/articles/PMC3481139/ /pubmed/23096117 http://dx.doi.org/10.1038/cddis.2012.152 Text en Copyright © 2012 Macmillan Publishers Limited http://creativecommons.org/licenses/by-nc-nd/3.0/ This work is licensed under the Creative Commons Attribution-NonCommercial-No Derivative Works 3.0 Unported License. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-nd/3.0/
repository_type Open Access Journal
institution_category Foreign Institution
institution US National Center for Biotechnology Information
building NCBI PubMed
collection Online Access
language English
format Online
author 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
spellingShingle 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
Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis
author_facet 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
author_sort Terrinoni, A
title Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis
title_short Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis
title_full Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis
title_fullStr Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis
title_full_unstemmed Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis
title_sort novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis
description 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.
publisher Nature Publishing Group
publishDate 2012
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3481139/
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