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

Mutations in the gene encoding filaggrin (FLG) have been identified as cause of ichthyosis vulgaris (IV) and shown to be major predisposing factors for atopic dermatitis. The profilaggrin protein consists 10-12 monomer repeats arranged tandem, which arise from an ultra-long sequence exon 3 comprised near-indistinguishable repeats, demonstrating intragenic copy number variations (CNVs). As such, it was not until 2006 that null mutations FLG could detected using newly developed long-range polymerase chain reaction (PCR) technique. However, this technique is labor-intensive, time-consuming costly. Nanopore sequencing a third-generation technology with ability longer reads DNA RNA real-time. In present study, five Taiwanese IV patients were recruited. We applied nanopore detecting CNVs, yielding concordant results those obtained traditional PCR. Mutation analysis revealed compatible mutation status unveiled by PCR-based Sanger sequencing. subsequently estimated total cost time required our lab entire sequencing, whole-exome or last accounts around 1/5 less than 1/3 when compared first. Herein, we propose has potential more cost-effective time-efficient conducting molecular analysis, particularly detection CNVs IV.