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- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2019.1
- 수록면
- 1 - 11 (11page)
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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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참고문헌 (42)
참고문헌 신청
Berger W / 2010 / The molecular basis of human retinal and vitreoretinal diseases / Prog Retin Eye Res 29(5):335~375
Dias MF / 2018 / Molecular genetics and emerging therapies for retinitis pigmentosa : basic research and clinical perspectives / Prog Retin Eye Res 63:107~131
Colella P / 2012 / Gene therapy of inherited retinopathies : a long and successful road from viral vectors to patients / Hum Gene Ther 23(8):796~807
Fujinami K / 2013 / ABCA4 gene screening by next-generation sequencing in a British cohort / Invest Ophthalmol Vis Sci 54(10):6662~6674
Oishi M / 2014 / Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing / Invest Ophthalmol Vis Sci 55(11):7369~7375
Dias MF / 2018 / Molecular genetics and emerging therapies for retinitis pigmentosa : basic research and clinical perspectives / Prog Retin Eye Res 63:107~131
Colella P / 2012 / Gene therapy of inherited retinopathies : a long and successful road from viral vectors to patients / Hum Gene Ther 23(8):796~807
Fujinami K / 2013 / ABCA4 gene screening by next-generation sequencing in a British cohort / Invest Ophthalmol Vis Sci 54(10):6662~6674
Oishi M / 2014 / Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing / Invest Ophthalmol Vis Sci 55(11):7369~7375
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