A novel RP1 mutation demonstrated in a Turkish family with autosomal recessive retinitis pigmentosa

Abstract Retinitis pigmentosa (RP) refers to a heterogeneous group of inherited ocular diseases that result in a progressive retinal degeneration. Due to the genetic heterogeneity of RP, 76 different forms have been described till now. Also, autosomal recessive, dominant and X-linked inheritance has also been reported. A major indication for use of whole exome sequencing (WES) in the molecular diagnosis of patients depends on the genetic heterogeneity. In this study, we performed WES for a patient diagnosed with RP. The results confirmed with Sanger sequencing revealed a novel frameshift homozygous mutation at exon 4 of RP1 gene: c.4743dupA indicating an autosomal recessive inheritance in this family. Genetic counseling is needed in such families diagnosed as retinitis pigmentosa. After finding the causative mutation in such families preimplantation genetic diagnosis can be advised for their future pregnancies.