Molecular studies of ichthyosis vulgaris in Pakistani families

To target and amplify a 1.5 kb FLG gene fragment known to carry R501X mutation responsible for causing ichthyosis vulgaris.

A case series.

Centre for Molecular Genetics, University of Karachi and Dermatology Department, Jinnah Postgraduate Medical Centre (JPMC), Karachi, from October 2007 to December 2008.

Clinically examined seven ichthyosis vulgaris families were included in this study. The 1.5 kb FLG gene fragment was located in the genomic DNA of both the affected (patients) and unaffected (normal, controls) members of the families by PCR amplification using known primers FilF3 and RPTIP6.

Amplification of 1.5 kb FLG gene fragment was successful in four families while one family showed amplification of the gene fragment in 3 members (one affected and two normal). Two families showed no amplification.

The results obtained during this study suggested the possibility of the R501X mutation as being one of the major causes of ichthyosis vulgaris in Pakistan. In addition, the study also revealed the possibility of the presence of novel FLG gene mutations in our population.