WES findings on 150 TurkishRetinitis Pigmentosa Patients

Uyanik B.

European Society of Human Genetics 2021, 12 - 15 June 2021

  • Publication Type: Conference Paper / Unpublished
  • Bezmialem Vakıf University Affiliated: Yes


WES findings on 150 TurkishRetinitis Pigmentosa Patients

Author Block: B. Uyanık


, S. Canbek



1Bezmialem Vakif University Faculty of Medicine Medical Genetics Department, Fatih, Turkey, 2Ümraniye EAH, istanbul, Turkey.


Retinal dystrophy has genetic heterogeneity including all types of monogenetic patterns plus digenic inheritance. We did Clinical Exome

Sequencing with Illumina NextSeq-500 sequencer / Sophia Genetics Clinical Exome Solution (CES) version-2 kit for more than 160 Turkish

retinal 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 cases

following 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 consanguineous

marriage. 10% cases has multiple mutated genes suggestive of digenic/oligogenic inheritance. 10 % cases no pathogenic/likely pathogenic or

a variant of unknown significance mutations. Still possible to explain there is any kind of undetectable mutation because of NGS technical

limitation or atypical inheritance pattern or non-genetics etiology. Aim of the this oral presentation/poster present our experience about

retinal distrophies.

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