293 Application of nanopore sequencing in identifying null mutations and intragenic copy number variations in filaggrin gene

Abstract

Mutations in the gene encoding filaggrin (FLG) have been identified as the cause of ichthyosis vulgaris (IV) and shown to be major predisposing factors for atopic dermatitis. The profilaggrin protein consists of 10-12 filaggrin monomer repeats arranged in tandem, which arise from an ultra-long sequence of exon 3 comprised of near-indistinguishable repeats, demonstrating intragenic copy number variations (CNVs). As such, it was not until 2006 that null mutations in FLG could be detected using the newly developed long-range polymerase chain reaction (PCR) technique.