Research provides a comprehensive genomic and epigenomic landscape of ICE syndrome

The Iridocorneal Endothelial (ICE) syndrome is a rare, irreversible dazzling eye disorder with an unknown etiology. Lack of targeted effective drugs, inadequate diseases and high relapse rates after the operation are the current challenges of ice cream. Therefore, understanding their genomic and epigenomic landscape could help the development of etiological therapies.

This research published in the Genes and diseases Journal BY A Team from Sun Yat-Sen University, Guangzhou Medical University, Fujian Medical University, Shandong First Medical University, Huazhong University of Science and Technology, Nancchang University, Nanjing Medical University, China Three Gorges University, Hebei Medical University, Central South University, Xiamen University, Zhejiang University, and the Macau University of Science and Technology, Provides A Comprehensive Genomic and Epigenomic Landscape of ICE syndrome to inform the development of etiological therapies.

The researchers recruited 99 ICE patients and carried out at 51 and genome-wide DNA methylation profiles (WGS) at 48.

The researchers that investigated copy number variation (CNV) in ICE syndrome and identified 41 regions with Significant CNVS, including the region at Chr19: 15783859-15791329 (HG19), Chr3: 75786061-75790887 (HG19) and Chr19: 55276166-55295820 (HG19), which shows the loss of copies at 39, 19 or 5 patients. In addition, this study showed that the number of copies of genes CYP4F12, ZNF717 and KIR2DL1 can induce a dysfunction of corneal endothelzelles and viral infection inducing the pathological conversion of corneal endotholes in ICE syndrome.

This study also identified 2,717 differential methylated regions (DMRS), whereby hypomethylation in ICE syndrome (91.9% of the DMRS). Under these, 45 recurrent hypomethylated regions (HMRS) showed different methylation in more than 10% of ICE patients compared to normal controls. Interestingly, the researchers found that Chr2_95692705_95692728 (HG19), the most frequently identified HMR at ICE patients, on which the promoter is located. This indicates that the promoter hypomethylation and increased expression of times can contribute to epithelial hyperplasia of corneal endothelzelles in ICE syndrome.

The most important results of this study include identifying pathogenic genes in patients with ICE syndrome related to eye diseases, viral immunity and epithelioid hyperplasia. These results suggest that virus infections can trigger the pathological transformation of corneal endothelzelles based on these genetic and epigenetic vulnerabilities, which leads to the development of ICE syndrome. In summary, this study represents the first comprehensive genomic and epigenomic analysis of ICE syndrome using an impartial sequence of the next generation.