PRPF6

Mutations in the pre-mRNA processing factor 6 (PRPF6) gene are a cause of retinitis pigmentosa (RP), an inherited disease that leads to blindness. "We identified two novel causative mutations in PRPF6, responsible for autosomal dominant (definition: An inheritance pattern where a single altered copy of a gene, from just one parent, is enough to cause the condition.) retinitis pigmentosa with variation of penetrance. Presence of asymptomatic carriers is common among patients with adRP, especially when the cause of the disease is due to a mutation in splicing factors’ genes. The two mutations identified lead to a mislocalization of the PRPF6 protein within the nucleus, which could indicate a possible alteration in the assembly or recycling of the tri-snRNP complex of the spliceosome." ( Guillaume OLIVIER, Beatrice BOCQUET, Carlo Rivolta, Ervann Andre, Agnes Muller, Christian Hamel, Alice MASUREL, Catherine P Creuzot Garcher, Laurence FAIVRE, Isabelle Anne Meunier, Gael Manes, Investigative Ophthalmology & Visual Science, June 2020, Vol.61, 2401) RP is characterized by progressive loss of photoreceptors and retinal pigment epithelium. Symptoms include difficulty seeing in dim light or at dusk, reduced peripheral vision, gradual narrowing of the area of good vision.