WES findings on 150 TurkishRetinitis Pigmentosa Patients

Abstract

WES findings on 150 TurkishRetinitis Pigmentosa PatientsAuthor Block: B. Uyanık1, S. Canbek2;1Bezmialem Vakif University Faculty of Medicine Medical Genetics Department, Fatih, Turkey, 2Ümraniye EAH, istanbul, Turkey.Abstract:Retinal dystrophy has genetic heterogeneity including all types of monogenetic patterns plus digenic inheritance. We did Clinical ExomeSequencing with Illumina NextSeq-500 sequencer / Sophia Genetics Clinical Exome Solution (CES) version-2 kit for more than 160 Turkishretinal dystrophy patients. We detected SNV and CNV type variants as causative mutations more than 150 cases.15 cases has single to oligo-exonic deletions which mostly undetectable with microarray analysis because of their small size. Most mutated gene ABCA4 with 15 casesfollowing USH2A with 14 and PCARE with 13 cases.5 patient biallelic mutations on RPE65 gene which treatable with -voretigene neparvovec-rzyl- gene therapy. 7 cases has X linked mod of inheritance. Most patient has autosomal recessive inheritance arisen from consanguineousmarriage. 10% cases has multiple mutated genes suggestive of digenic/oligogenic inheritance. 10 % cases no pathogenic/likely pathogenic ora variant of unknown significance mutations. Still possible to explain there is any kind of undetectable mutation because of NGS technicallimitation or atypical inheritance pattern or non-genetics etiology. Aim of the this oral presentation/poster present our experience aboutretinal distrophies.Author Disclosure Information: