The genomic and epigenomic landscape of iridocorneal endothelial syndrome.

• Tác giả: Meizhu Chen, Yang Chen, Jiayu Deng, Sujie Fan, Xiuli Fang, Jianjun Gu, Xiaodan Huang, Jiaxuan Jiang, Mingying Lai, Fei Li, Gen Li, Guigang Li, Li Li, Yingjie Li, Liang Liang, Lingyi Liang, Danyan Liu, Xuequn Liu, Yaoming Liu, Yuhong Liu, Lan Lu, Aiguo Lv, Jingming Shi, Hong Sun, Tao Sun, Yuhong Tang, Hua Wang, Peiyuan Wang, Ting Wang, Yayi Wang, Tao Wen, Jingni Yu, Kang Zhang, Xiulan Zhang, Xu Zhang, Wenzong Zhou
• Ngôn ngữ: eng
• Ký hiệu phân loại: 595.3792 *Crustacea
• Thông tin xuất bản: Netherlands : Genes & diseases , 2025
• Bộ sưu tập: NCBI
• ID: 725384

Tóm tắt

 Iridocorneal endothelial (ICE) syndrome is a rare, irreversibly blinding eye disease with an unknown etiology. Understanding its genomic and epigenomic landscape could aid in developing etiology-based therapies. In this study, we recruited 99 ICE patients and performed whole-genome sequencing (WGS) on 51 and genome-wide DNA methylation profiling on 48 of them. We conducted mutational burden testing on genes and noncoding regulatory regions, comparing the ICE cohort with control groups (9197 East Asians from the gnomAD database and 350 normal Chinese from our in-house cohort). Copy number variation (CNV) analysis and differential methylation of regions were also explored. We identified RP1L1 (27/51, 53%) with a significantly higher coding-altering mutational burden in the ICE cohort (p <
  8.3×10