The genomic and epigenomic landscape of iridocorneal endothelial syndrome
Year: 2024
Type: article
Study design: Observational Study
Abstract: ), with mutations predominantly at chr8:10467637 (hg19). Additionally, 41 regions with significant CNVs were identified, including two regions at chr19:15783859-15791329 (hg19) and chr3:75786061-75790887 (hg19), showing copy number loss in 39 and 19 patients, respectively. We also identified 2,717 differentially methylated regions (DMRs), with hypomethylation prevalent in ICE syndrome (91.9% of DMRs). Among these, 45 recurrent hypomethylated regions (HMRs) in more than 10% of ICE patients showed differential methylation compared to normal controls. This study presents the first comprehensive genomic and epigenomic characterization of ICE syndrome, offering insights into its underlying etiology.
Source: Genes & Diseases
Authors: Yaoming Liu, Gen Li, Jiaxuan Jiang, Sujie Fan, Lan Lu, Ting Wang, Guigang Li, Wenzong Zhou, Xuequn Liu, Yingjie Li, Hong Sun, Liang Liang, Yuhong Tang, Yang Chen, Jianjun Gu, Fei Li, Xiuli Fang, Tao Sun, Aiguo Lv, Yayi Wang, Peiyuan Wang, Tao Wen, Jiayu Deng, Yuhong Liu, Mingying Lai, Jingni Yu, Danyan Liu, Hua Wang, Meizhu Chen, Li Li, Xiaodan Huang, Jingming Shi, Xu Zhang, Kang Zhang, Lingyi Liang, Xiulan Zhang
Institutions: Sun Yat-sen University, State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou Women and Children Medical Center, Guangzhou Medical University, Han Dan City Eye Hospital - The Third Hospital of Handan, Fujian Medical University, Shandong Eye Hospital, Shandong First Medical University, Tongji Hospital, Huazhong University of Science and Technology, Aier Eye Hospital Group (China), Third Affiliated Hospital of Nanchang University, Third Hospital of Nanchang, Jiangsu Province Hospital, China Three Gorges University, Yichang Central People's Hospital, Nanchang University, Hebei Medical University, Second Hospital of Hebei Medical University, Central South University, Xiangya Hospital Central South University, Xiamen University, The People's Hospital of Guangxi Zhuang Autonomous Region, Second Affiliated Hospital of Zhejiang University, Zhejiang University, Second Xiangya Hospital of Central South University, Macau University of Science and Technology
Language: English
Subfield: Ophthalmology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $2,500
OpenAlex ID: W4404094489