Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology

Kao Jung Chang, Hsin Yu Wu, Aliaksandr A. Yarmishyn, Cheng Yi Li, Yu Jer Hsiao, Yi Chun Chi, Tzu Chen Lo, He Jhen Dai, Yi Chiang Yang, Ding Hao Liu, De Kuang Hwang, Shih Jen Chen, Chih Chien Hsu*, Chung Lan Kao

*此作品的通信作者

研究成果: Review article同行評審

摘要

Cerebral visual impairments (CVIs) is an umbrella term that categorizes miscellaneous visual defects with parallel genetic brain disorders. While the manifestations of CVIs are diverse and ambiguous, molecular diagnostics stand out as a powerful approach for understanding pathomechanisms in CVIs. Nevertheless, the characterization of CVI disease cohorts has been fragmented and lacks integration. By revisiting the genome-wide and phenome-wide association studies (GWAS and PheWAS), we clustered a handful of renowned CVIs into five ontology groups, namely ciliopathies (Joubert syndrome, Bardet–Biedl syndrome, Alstrom syndrome), demyelination diseases (multiple sclerosis, Alexander disease, Pelizaeus–Merzbacher disease), transcriptional deregulation diseases (Mowat–Wilson disease, Pitt–Hopkins disease, Rett syndrome, Cockayne syndrome, X-linked alpha-thalassaemia mental retardation), compromised peroxisome disorders (Zellweger spectrum disorder, Refsum disease), and channelopathies (neuromyelitis optica spectrum disorder), and reviewed several mutation hotspots currently found to be associated with the CVIs. Moreover, we discussed the common manifestations in the brain and the eye, and collated animal study findings to discuss plausible gene editing strategies for future CVI correction.

原文English
文章編號9707
期刊International Journal Of Molecular Sciences
23
發行號17
DOIs
出版狀態Published - 9月 2022

指紋

深入研究「Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology」主題。共同形成了獨特的指紋。

引用此