Does a mutation in a splicing factor that cause retinitis pigmentosa has a transcriptome-wide effect on mRNA splicing?
Our results show that a mutation in a splicing factor, with a phenotype that is restricted to retinal tissue, acts as a trans-sQTL cluster in whole blood samples. Characteristics of the affected exons suggest that they are spliced co-transcriptionally and via exon definition. However, due to the small sample size available for this study, further studies are required to confirm the widespread impact of this PRPF8 mutation on mRNA splicing outside the retina.
It is suggested that, compared with anatomic reduction, preoperative ASA, age and the time interval between trauma and surgery are more predictive criteria of patient mortality in the months following the intervention.