J Genet Med.  2013 Jun;10(1):13-19. 10.5734/JGM.2013.10.1.13.

Strategies for Mutation Discovery in Retinitis Pigmentosa: Transition to the Next Generation

Affiliations
  • 1Department of Ophthalmology, Seoul National University College of Medicine, Seoul, Korea. hgonyu@snu.ac.kr

Abstract

Retinitis pigmentosa (RP) is the most common hereditary retinal disorder and is characterized by progressive retinal degeneration and decline in vision. RP comprises a heterogeneous group of disorders caused by various genetic variants. Since the first discovery of the causal mutation in the RHO gene using positional cloning, numerous mutations have been detected in more than 60 loci and 50 genes. However, causal genes have not been discovered in about 50% of cases. We attempt here to review the strategies to identify causal alleles of retinitis pigmentosa. These include conventional methods as well as state-of-the-art technologies based on next-generation sequencing.

Keyword

Retinitis pigmentosa; RHO gene; Next-generation sequencing
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