Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis.
Cell Death Dis
; 3: e416, 2012 Oct 25.
Article
in En
| MEDLINE
| ID: mdl-23096117
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Transglutaminases
/
Ichthyosis, Lamellar
/
Mutation
Limits:
Humans
Language:
En
Journal:
Cell Death Dis
Year:
2012
Document type:
Article
Affiliation country:
Italy