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Elfride De Baere; Non-coding cis-acting genetic defects in inherited blindness: from targeted locus resequencing to interpretation. Invest. Ophthalmol. Vis. Sci. 201657(12):.
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© 2017 Association for Research in Vision and Ophthalmology.
Presentation Description :
Over 200 disease genes have been implicated in retinal dystrophies (RDs), accounting for only ~50% of cases. Although most mutations underlying RDs are located in coding regions, it can be anticipated that part of the missing genetic variation in RD is located in non-coding regions of the genome such as untranslated regions (UTRs), the core promoter, deep intronic regions influencing cis-acting splicing or in more distant regulatory regions such as enhancers. Several examples are a deletion of the first non-coding exon of EYS and LCA5; a mutation in the donor splice site of the first non-coding exon of EYS; 5’UTR mutations in NMNAT1; deep intronic variants in ABCA4, CEP290, USH2A and PROM1 leading to alternate splicing. This presentation will provide an overview of locus-specific approaches for identification of non-coding genetic defects and for their interpretation.
This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.
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