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BioMed Research International
Volume 2014, Article ID 706827, 6 pages
Research Article

A Novel Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient

1Genomics and Central Research Laboratory, Department of Cell Biology and Molecular Genetics, Sri Devaraj Urs Academy of Higher Education and Research, Tamaka, Kolar 563101, India
2Molecular Biophysics Unit, Indian Institute of Science, Bangalore 560012, India
3National Centre for Biological Sciences, Bangalore 560065, India
4Department of Paediatrics, Sri Devaraj Urs Medical College, Tamaka, Kolar 563101, India

Received 28 February 2014; Accepted 2 June 2014; Published 10 August 2014

Academic Editor: Kapil Mehta

Copyright © 2014 D. Vaigundan et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Structure-function implication on a novel homozygous Trp250/Gly mutation of transglutaminase-1 (TGM1) observed in a patient of autosomal recessive congenital ichthyosis is invoked from a bioinformatics analysis. Structural consequences of this mutation are hypothesized in comparison to homologous enzyme human factor XIIIA accepted as valid in similar structural analysis and are projected as guidelines for future studies at an experimental level on TGM1 thus mutated.