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Trio-based whole-exome sequencing of 200 Chinese patients with keratoconus

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收录情况： ◇ SCIE

作者：
Li Xingyong[1,2,3,4] * ; Yao Yinghao[5] ; Xing Shilai[6] ; Zheng Yi-Han[1,2,3] ; Zhou Yang[4] ; Yu Xiaoguang[6] ; Su Jianzhong[1,2,3,5,*1] ; Chen Shihao[1,2,3,4,*1] ; Jin Zi-Bing[7,8] ;
机构： [1]National Clinical Research Center for Ocular Diseases, Eye Hospital, Wenzhou Medical University, Wenzhou, 325027, China [2]National Engineering Research Center of Ophthalmology and Optometry, Eye Hospital, Wenzhou Medical University, Wenzhou, 325027, China [3]State Key Laboratory of Ophthalmology, Optometry and Visual Science, Eye Hospital, Wenzhou Medical University, Wenzhou, 325027, China [4]Taizhou Ophthalmology and Optometry Hospital, Taizhou, 318001, China [5]Oujiang Laboratory (Zhejiang Lab for Regenerative Medicine, Vision and Brain Health), The Eye Hospital, Wenzhou Medical University, Wenzhou, 325000, Zhejiang, China [6]Institute of PSI Genomics, Wenzhou Global Eye & Vision Innovation Center, Wenzhou, 325024, Zhejiang, China [7]Division of Ophthalmic Genetics, The Eye Hospital, Wenzhou Medical University, Wenzhou, 325027, Zhejiang, China [8]Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Sciences Key Laboratory, Beijing, 100005, China
出处：
DOI： 10.1016/j.exer.2024.110109
ISSN：

关键词： Keratoconus Whole-exome sequencing Trio-based Genes Genetic heterogeneity

摘要：
Keratoconus (KC) is a complex corneal disorder with a well-recognized genetic component. In this study, we aimed to expand the genetic spectrum of 200 Chinese patients with keratoconus and their unaffected parents. Trio-based whole-exome sequencing was performed in 200 patients with sporadic keratoconus and their unaffected parents. The variants identified in candidate genes for keratoconus were analyzed using multiple bioinformatics tools. Finally, we identified 7 variants in 5 candidate genes for keratoconus in 5 patients. The c.T464C variant in the IMPDH1 gene was defined as likely pathogenic according to the guidelines of the American College of Medical Genetics and Genomics, and the remaining variants in candidate genes (TRANK1, SLC4A11, CERKL, IFT172) were defined as uncertain significance. Our results expand the genetic spectrum in KC, highlight the genetic heterogeneity of this disease and provide important clues for future functional validation.Copyright © 2024. Published by Elsevier Ltd.

基金：
This work was supported by the Zhejiang Provincial Natural Science Foundation of China (LY20H120005), Wenzhou Science and Technology Project (Y2020359), National Natural Science Foundation of China (82172882, 82101143), Zhejiang Provincial Natural Science Foundation of China (LZ24H120003, LQ24C120003), and Wenzhou Medical University Basic Scientific Research Operating Expenses (KYYW202105)
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外文
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中科院(CAS)分区：
出版当年[2023]版：
大类 | 2 区 医学
小类 | 2 区 眼科学
最新[2023]版：
大类 | 2 区 医学
小类 | 2 区 眼科学
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出版当年[2022]版：
Q2 OPHTHALMOLOGY
最新[2023]版：
Q1 OPHTHALMOLOGY

影响因子： 最新[2023版] 最新五年平均 出版当年[2022版] 出版当年五年平均 出版前一年[2021版] 出版后一年[2023版]

第一作者：
第一作者机构： [1]National Clinical Research Center for Ocular Diseases, Eye Hospital, Wenzhou Medical University, Wenzhou, 325027, China [2]National Engineering Research Center of Ophthalmology and Optometry, Eye Hospital, Wenzhou Medical University, Wenzhou, 325027, China [3]State Key Laboratory of Ophthalmology, Optometry and Visual Science, Eye Hospital, Wenzhou Medical University, Wenzhou, 325027, China [4]Taizhou Ophthalmology and Optometry Hospital, Taizhou, 318001, China
通讯作者：
通讯机构： [1]National Clinical Research Center for Ocular Diseases, Eye Hospital, Wenzhou Medical University, Wenzhou, 325027, China [2]National Engineering Research Center of Ophthalmology and Optometry, Eye Hospital, Wenzhou Medical University, Wenzhou, 325027, China [3]State Key Laboratory of Ophthalmology, Optometry and Visual Science, Eye Hospital, Wenzhou Medical University, Wenzhou, 325027, China [4]Taizhou Ophthalmology and Optometry Hospital, Taizhou, 318001, China [5]Oujiang Laboratory (Zhejiang Lab for Regenerative Medicine, Vision and Brain Health), The Eye Hospital, Wenzhou Medical University, Wenzhou, 325000, Zhejiang, China [*1]State Key Laboratory of Ophthalmology, Optometry and Visual Science, Eye Hospital, Wenzhou Medical University, Wenzhou, 325027, China
推荐引用方式(GB/T 7714)：
Li Xingyong,Yao Yinghao,Xing Shilai,et al.Trio-based whole-exome sequencing of 200 Chinese patients with keratoconus[J].Experimental Eye Research.2024,248:110109.doi:10.1016/j.exer.2024.110109.
APA：
Li Xingyong,Yao Yinghao,Xing Shilai,Zheng Yi-Han,Zhou Yang...&Jin Zi-Bing.(2024).Trio-based whole-exome sequencing of 200 Chinese patients with keratoconus.Experimental Eye Research,248,
MLA：
Li Xingyong,et al."Trio-based whole-exome sequencing of 200 Chinese patients with keratoconus".Experimental Eye Research 248.(2024):110109

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