A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma

Retinitis pigmentosa is a group of genetically inherited eye diseases which represents the most frequent cause of inherited blindness worldwide. Persons with retinitis pigmentosa experience night blindness, which is followed by tunnel vision due to the progressive degeneration of the light sensing cells called rods and cones. Approximately 60 different genes can be defective in retinitis pigmentosa. By sequence analysis of all 20.000 human genes, we could identify defects in DHX38 in 4 retinitis pigmentosa patients of a consanguineous Pakistani family. DHX38 encodes a protein that is important for the processing of RNA molecules, which are crucial intermediates between DNA and protein molecules. This finding enables genetic counseling in this family and provides new insights into the disease mechanism. (By Prof. dr. Frans P.M. Cremers, http://jmg.bmj.com/content/early/2014/04/15/jmedgenet-2014-102316 )