2003•Chinese Journal of DermatologyRequires access
A Nonsense Mutation in Transglutaminase1Gene and Loss of Enzyme Activity in a Family with Lamellar Ichthyosis
Yong Yang, Tie-niu Ma, Haizhen Yang, Dingfang Bu, Ke Wang, Ping Tu
Open publisher page 1 citations
Abstract
Objective
To detect the activity of transglutaminase1(TGM1)and gene mutation in a family with lamellar ichthyosis.
Methods
Immunohistochemistry technique was used to detect the activity of transglutaminase1.Complete encoding sequences of TGM1 gene were analyzed in this family by using PCR-DNA sequencing.
Results
No activity of transglutaminase1was detected in the proband's skin.A nonsense mutation of C604T located in exon4of TGM1 gene was identified by PCR-DNA sequencing,which caused a premature termination of Q202X and a defective polypeptide truncated by615amino acids in C-terminus.A heterozygous C604T mutation was carried by both of the proband's parents.
Conclusion
The proband of lamellar ichthyosis in this family shows loss of transglutaminase1activity,which is resulted from a truncated transglutaminase1coded by the homozygous mutant TGM1 gene.
Key words:
Ichthyosis,lamellar; Transglutaminases; Codon,nonsense