Médecine moléculaire et génétique

Novel RP2 Gene Deletion in a Patient with Bilateral Retinitis Pigmentosa: Insights of Technical Challenges of Next Generation Sequencing

Abstract

Dickson A, Paulraj P, Oâ??Fallon B, Lewis TB, Best H and Ji Y

Massively parallel sequencing or next generation sequencing (NGS) panel-based testing has paved the way for rapid clinical molecular diagnosis of diseases by sequencing all known involved genes. One such condition is retinitis pigmentosa (RP), which is a genetically heterogeneous disorder that can be caused by autosomal recessive, autosomal dominant, digenic, or X-linked pathogenic variants, making a genetic diagnosis challenging. Large deletions and duplications in the RP genes have been known to contribute to a significant proportion of cases, and therefore, deletion/duplication analysis by various methods are often to be added to the RP NGS panel testing. In this report, we describe the process of identifying a large novel deletion in the X-linked RP2 gene that presented novel challenges for the NGS-based molecular testing.