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Ichthyosis vulgaris (IV) is the most common inherited cornification disorder. Previous research demonstrated a loss of filaggrin (filament aggregating protein) in IV, but mutations had not yet been identified. Filaggrin is important in the formation of the stratum corneum and in maintaining barrier function. Biopsy samples of IV skin show reduced filaggrin levels. Filaggrin peptides are derived from proteolytic cleavage of profilaggrin. The structure of filaggrin is unusual in that the largest exon is composed of 10 to 12 filaggrin repeats, identical at the DNA level. Because this exon is 12,000 bp in length, traditional PCR-based sequencing strategies are largely ineffective.
Using more-sophisticated molecular approaches, investigators in S…