期刊
JOURNAL OF KOREAN MEDICAL SCIENCE
卷 34, 期 21, 页码 -出版社
KOREAN ACAD MEDICAL SCIENCES
DOI: 10.3346/jkms.2019.34.e161
关键词
Gene; Gene Panel; Inherited Retinal Disease; Korea
资金
- Seoul National University Bundang Hospital [02-2017-059]
- Basic Science Research Program through the National Research Foundation (NRF) of Korea - Ministry of Education, Science, and Technology [2012R1A1A2006958]
- NRF grant from the Ministry of Science, ICT, and Future Planning (MSIP) [2016R1D1A1B03934724, 2017R1A2B2011436, 2019R1C1C1009345]
- National Research Foundation of Korea [2019R1C1C1009345, 2012R1A1A2006958, 2017R1A2B2011436] Funding Source: Korea Institute of Science & Technology Information (KISTI), National Science & Technology Information Service (NTIS)
Background: Because of genetically and phenotypically heterogenous features, identification of causative genes for inherited retinal diseases (IRD) is essential for diagnosis and treatment in coming gene therapy era. To date, there are no large-scale data of the genes responsible for IRD in Korea. The aim of this study was to identify the distribution of genetic defects in IRD patients in Korea. Methods: Medical records and DNA samples from 86 clinically diagnosed IRD patients were consecutively collected between July 2011 and May 2015. We applied the next-generation sequencing strategy (gene panel) for screening 204 known pathogenic genes associated with IRD. Results: Molecular diagnoses were made in 38/86 (44.2%) IRD patients: 18/44 (40.9%) retinitis pigmentosa (RP), 8/22 (36.4%) cone dystrophy, 6/7 (85.7%) Stargardt disease, 1/1 (100%) Best disease, 1/1 (100%) Bardet-Biedl syndrome, 1/1 (100%) congenital stationary night blindness, 1/1 (100%) choroideremia, and 2/8 (25%) other macular dystrophies. ABCA4 was the most common causative gene associated with IRD and was responsible for causing Stargardt disease (n = 6), RP (n =1), and cone dystrophy (n = 1). In particular, mutations in EYS were found in 4 of 14 autosomal recessive RP (29%). All cases of Stargardt disease had a mutation in the ABCA4 gene with an autosomal recessive trait. Conclusion: This study provided the distribution of genetic mutations responsible for causing IRD in the Korean patients. This data will serve as a reference for future genetic screening and treatment for Korean IRD patients.
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