Exploring the role of non-coding variation in inherited retinal dystrophies: NMNAT1 regulatory mutations as a proof of concept Ghent University
Inherited retinal dystrophies (RDs) are a major cause of early-onset blindness worldwide. The
currently known genetic defects account for ~50% of RD cases and are mostly located in the coding
portion of the genome. However, there is accumulating evidence that a large proportion of
mutations reside in non-protein-coding regions, the so-called “unk DNA” Thus far, several deepintronic
mutations have been ...