Whole Exome Sequencing Reveals GUCY2D as a Major Gene Associated With Cone and Cone-Rod Dystrophy in Israel [Genetics]

Conclusions.
Our study suggested that GUCY2D is a major cause of autosomal dominant cone and cone–rod dystrophies in Israel; this is similar to other Caucasian populations and is in contrast with retinitis pigmentosa (primary rod disease), where the genetic make-up of the Israeli population is distinct from other ethnic groups. We also conclude that WES permits more comprehensive and rapid analyses that can be followed by targeted screens of larger samples to delineate the genetic structure of retinal disease in unique population cohorts.

Source: Investigative Ophthalmology - January 15, 2015 Category: Opthalmology Authors: Lazar, C. H., Mutsuddi, M., Kimchi, A., Zelinger, L., Mizrahi-Meissonnier, L., Marks-Ohana, D., Boleda, A., Ratnapriya, R., Sharon, D., Swaroop, A., Banin, E. Tags: Genetics Source Type: research