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Published on: December 15, 2011
Diagnosis of autosomal recessive lamellar ichthyosis with mutations in the TGM1 gene
P B Cserhalmi-Friedman1, L M Milstone, A M Christiano
1Departments of Dermatology and Genetics and Development, Columbia University, College of Physicians & Surgeons, 630 W 168th Street VC-1526, New York, NY 10032, USA.
Background:
Autosomal recessive lamellar ichthyosis (ARLI) is a clinically and genetically heterogeneous disorder. In many cases, mutations in the transglutaminase 1 gene (TGM1) have been identified, however, other clinically indistinguishable cases have been linked to chromosomes 2, 3 and 19. Previous studies have failed to establish any correlation between clinical characteristics and genetic mutations.
Objectives:
To investigate the molecular basis of ARLI in 10 patients with the typical clinical presentation of the disorder.
Methods:
We performed polymerase chain reaction and direct sequencing-based mutation screening in all of these patients, and TGM1 immunofluorescence microscopy and in vitro enzyme activity assays in selected patients.
Results:
Mutation screening revealed 14 mutations, four of which have been previously described. While immunofluorescence microscopy was negative in patients with non-sense mutations or out-of-frame insertions or deletions, the results were variable in cases with mis-sense mutations and in cases with no mutations in the TGM1 gene. In vitro enzyme activity assays gave results consistent with the mutation data.
Conclusions:
Our findings support the importance of mutation screening in the evaluation of ARLI.
