Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan

Abstract Inherited retinal degenerations (IRDs) are a group of phenotypically and genotypically heterogeneous disorders with substantial socioeconomic impact. In this cohort study, we tried to address the genetic characteristics and epidemiology of IRDs in Taiwan. Totally, 312 families with IRDs wer...

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Autores principales:	Ta-Ching Chen, Ding-Siang Huang, Chao-Wen Lin, Chang-Hao Yang, Chung-May Yang, Victoria Y. Wang, Jou-Wei Lin, Allen Chilun Luo, Fung-Rong Hu, Pei-Lung Chen
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Genetics QH426-470
Acceso en línea:	https://doaj.org/article/8ffa4855565042f0b0f6d31cd4be68f6
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spelling	oai:doaj.org-article:8ffa4855565042f0b0f6d31cd4be68f62021-12-02T10:54:07ZGenetic characteristics and epidemiology of inherited retinal degeneration in Taiwan10.1038/s41525-021-00180-12056-7944https://doaj.org/article/8ffa4855565042f0b0f6d31cd4be68f62021-02-01T00:00:00Zhttps://doi.org/10.1038/s41525-021-00180-1https://doaj.org/toc/2056-7944Abstract Inherited retinal degenerations (IRDs) are a group of phenotypically and genotypically heterogeneous disorders with substantial socioeconomic impact. In this cohort study, we tried to address the genetic characteristics and epidemiology of IRDs in Taiwan. Totally, 312 families with IRDs were identified and recruited and genetic testing was performed via probe capture-based NGS targeting 212 IRD-related genes. Statistical analysis was based on the proband of each affected family. Disease-causing genotypes were identified in 178 families (57.1%). ABCA4 variants were the most common cause of disease in this cohort (27 families, 15.2%), whereas CYP4V2 variants were the most common cause for the single phenotype—Bietti’s crystalline dystrophy (12 families, 3.8%). Some variants such as ABCA4:c.1804C>T, CYP4V2:c.802-8_810delinsGC, and EYS:c6416G>A were population-specific disease-causing hotspots. Probands affected by ABCA4, RPGR, RP1L1, and CEP290 sought medical help earlier while patients affected by EYS and CYP4V2 visited our clinic at an older age. To evaluate the representativeness of our cohort in the genetic epidemiology of IRDs in Taiwan, our demographic data were compared with that of the total IRD population in Taiwan, obtained from the National Health Insurance Research Database. This is currently the largest-scale, comprehensive study investigating the genetic characteristics and epidemiology of IRD in Taiwan. These data could help patients and caregivers to adopt precision genomic medicine and novel gene therapies in near future.Ta-Ching ChenDing-Siang HuangChao-Wen LinChang-Hao YangChung-May YangVictoria Y. WangJou-Wei LinAllen Chilun LuoFung-Rong HuPei-Lung ChenNature PortfolioarticleMedicineRGeneticsQH426-470ENnpj Genomic Medicine, Vol 6, Iss 1, Pp 1-8 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Genetics QH426-470
spellingShingle	Medicine R Genetics QH426-470 Ta-Ching Chen Ding-Siang Huang Chao-Wen Lin Chang-Hao Yang Chung-May Yang Victoria Y. Wang Jou-Wei Lin Allen Chilun Luo Fung-Rong Hu Pei-Lung Chen Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan
description	Abstract Inherited retinal degenerations (IRDs) are a group of phenotypically and genotypically heterogeneous disorders with substantial socioeconomic impact. In this cohort study, we tried to address the genetic characteristics and epidemiology of IRDs in Taiwan. Totally, 312 families with IRDs were identified and recruited and genetic testing was performed via probe capture-based NGS targeting 212 IRD-related genes. Statistical analysis was based on the proband of each affected family. Disease-causing genotypes were identified in 178 families (57.1%). ABCA4 variants were the most common cause of disease in this cohort (27 families, 15.2%), whereas CYP4V2 variants were the most common cause for the single phenotype—Bietti’s crystalline dystrophy (12 families, 3.8%). Some variants such as ABCA4:c.1804C>T, CYP4V2:c.802-8_810delinsGC, and EYS:c6416G>A were population-specific disease-causing hotspots. Probands affected by ABCA4, RPGR, RP1L1, and CEP290 sought medical help earlier while patients affected by EYS and CYP4V2 visited our clinic at an older age. To evaluate the representativeness of our cohort in the genetic epidemiology of IRDs in Taiwan, our demographic data were compared with that of the total IRD population in Taiwan, obtained from the National Health Insurance Research Database. This is currently the largest-scale, comprehensive study investigating the genetic characteristics and epidemiology of IRD in Taiwan. These data could help patients and caregivers to adopt precision genomic medicine and novel gene therapies in near future.
format	article
author	Ta-Ching Chen Ding-Siang Huang Chao-Wen Lin Chang-Hao Yang Chung-May Yang Victoria Y. Wang Jou-Wei Lin Allen Chilun Luo Fung-Rong Hu Pei-Lung Chen
author_facet	Ta-Ching Chen Ding-Siang Huang Chao-Wen Lin Chang-Hao Yang Chung-May Yang Victoria Y. Wang Jou-Wei Lin Allen Chilun Luo Fung-Rong Hu Pei-Lung Chen
author_sort	Ta-Ching Chen
title	Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan
title_short	Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan
title_full	Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan
title_fullStr	Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan
title_full_unstemmed	Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan
title_sort	genetic characteristics and epidemiology of inherited retinal degeneration in taiwan
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/8ffa4855565042f0b0f6d31cd4be68f6
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Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan

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