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

Abstract

Genetic Medicine somal recessive, and 5-15% X-linked. 1) Further, rare forms of non-Mendelian inheritance occur, such as mitochondrial or digenic inheritance. Since the original discovery in 1990 that a mutation in the RHO gene encoding rhodopsin caused RP in one family, more than 60 loci and 50 genes have been identified as sites of causative mutations. 2) The identification of the causative mutation enables molecular diagnosis, carrier testing, and facilitates disease management and family counseling. Eventually, the causative mutation can serve as a target of therapy. Since the technical breakthroughs for performing genetic analysis such as Sanger sequencing or polymerase chain reaction (PCR), further remarkable advances have been made at a rapid rate. For example, because of its lower cost, high-throughput sequencing is now available to a wide range of researchers. Despite recent advances in identifying the genetic basis of RP, several difficult hurdles must be overcome to better definition of its molecular basis. These include the large number of genes