Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene

Retinitis pigmentosa (RP) is a genetic disease that causes progressive blindness and that is caused by mutations in more than 50 genes. Conventional methods for identification of both RP mutations and novel RP genes involve the screening of DNA sequences spanning coding exons. In our work, we conversely test the use of whole genome sequencing, a technique that takes into account all variants from both the coding and noncoding regions of the human genome. In our approach, we identify a number of unique RP mutations, a previously undescribed disease gene, as well as pathogenic structural DNA rearrangements originating in introns.