Browse

Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration

Cited 0 time in Web of Science Cited 0 time in Scopus
Authors
Ma, Dae Joong; Lee, Hyun-Seob; Kim, Kwangsoo; Choi, Seongmin; Jang, Insoon; Cho, Seo-Ho; Yoon, Chang Ki; Lee, Eun Kyoung; Yu, Hyeong Gon
Issue Date
2021-03-10
Publisher
BMC
Citation
BMC Medical Genomics. 2021 Mar 10;14(1):74
Keywords
Whole-exome sequencingInherited retinal degenerationRetinitis pigmentosa
Abstract
Background
To date, no genetic analysis of inherited retinal disease (IRD) using whole-exome sequencing (WES) has been conducted in a large-scale Korean cohort. The aim of this study was to characterise the genetic profile of IRD patients in Korea using WES.

Methods
We performed comprehensive molecular testing in 168 unrelated Korean IRD patients using WES. The potential pathogenicity of candidate variants was assessed using the American College of Medical Genetics and Genomics and the Association for Molecular Pathology variant interpretation guidelines, in silico prediction tools, published literature, and compatibility with known phenotypes or inheritance patterns.

Results
Causative variants were detected in 86/168 (51.2%) IRD patients, including 58/107 (54.2%) with retinitis pigmentosa, 7/15 (46.7%) with cone and cone-rod dystrophy, 2/3 (66.6%) with Usher syndrome, 1/2 (50.0%) with congenital stationary night blindness, 2/2 (100.0%) with Leber congenital amaurosis, 1/1 (100.0%) with Bietti crystalline dystrophy, 1/1 (100.0%) with Joubert syndrome, 9/10 (90.0%) with Stargardt macular dystrophy, 1/10 (10.0%) with vitelliform macular dystrophy, 1/11 (9.1%) with other forms of macular dystrophy, and 3/4 (75.0%) with choroideraemia. USH2A, ABCA4, and EYS were the most common causative genes associated with IRD. For retinitis pigmentosa, variants of USH2A and EYS were the most common causative gene mutations.

Conclusions
This study demonstrated the distribution of causative genetic mutations in Korean IRD patients. The data will serve as a reference for future genetic screening and development of treatment modalities for Korean IRD patients.
ISSN
1755-8794
Language
English
URI
https://hdl.handle.net/10371/174411
DOI
https://doi.org/10.1186/s12920-021-00874-6
Files in This Item:
Appears in Collections:
College of Medicine/School of Medicine (의과대학/대학원)Ophthalmology (안과학전공)Journal Papers (저널논문_안과학전공)
  • mendeley

Items in S-Space are protected by copyright, with all rights reserved, unless otherwise indicated.

Browse