Chen Ta-Ching, Huang Ding-Siang, Lin Chao-Wen, Yang Chang-Hao, Yang Chung-May, Wang Victoria Y, Lin Jou-Wei, Luo Allen Chilun, Hu Fung-Rong, Chen Pei-Lung
Department of Ophthalmology, National Taiwan University Hospital, Taipei, Taiwan.
Graduate Institute of Clinical Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan.
NPJ Genom Med. 2021 Feb 19;6(1):16. doi: 10.1038/s41525-021-00180-1.
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.
遗传性视网膜变性（IRDs）是一组在表型和基因型上具有异质性的疾病，具有重大的社会经济影响。在这项队列研究中，我们试图探讨台湾地区IRDs的遗传特征和流行病学情况。总共识别并招募了312个患有IRDs的家庭，并通过基于探针捕获的二代测序（NGS）对212个与IRDs相关的基因进行了基因检测。统计分析基于每个患病家庭的先证者。在178个家庭（57.1%）中鉴定出致病基因型。ABCA4变异是该队列中最常见的致病原因（27个家庭，15.2%），而CYP4V2变异是单一表型——比埃蒂结晶状营养不良最常见的致病原因（12个家庭，3.8%）。一些变异，如ABCA4:c.1804C>T、CYP4V2:c.802-8_810delinsGC和EYS:c6416G>A是特定人群的致病热点。受ABCA4、RPGR、RP1L1和CEP290影响的先证者更早寻求医疗帮助，而受EYS和CYP4V2影响的患者在年龄较大时到我们诊所就诊。为了评估我们的队列在台湾地区IRDs遗传流行病学中的代表性，我们将人口统计学数据与从国民健康保险研究数据库获得的台湾地区IRD总人群数据进行了比较。这是目前调查台湾地区IRDs遗传特征和流行病学的最大规模、综合性研究。这些数据有助于患者和护理人员在不久的将来采用精准基因组医学和新型基因疗法。
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