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Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology
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. Ne...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9456058/ https://www.ncbi.nlm.nih.gov/pubmed/36077104 http://dx.doi.org/10.3390/ijms23179707 |
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author | Chang, Kao-Jung Wu, Hsin-Yu Yarmishyn, Aliaksandr A. Li, Cheng-Yi Hsiao, Yu-Jer Chi, Yi-Chun Lo, Tzu-Chen Dai, He-Jhen Yang, Yi-Chiang Liu, Ding-Hao Hwang, De-Kuang Chen, Shih-Jen Hsu, Chih-Chien Kao, Chung-Lan |
author_facet | Chang, Kao-Jung Wu, Hsin-Yu Yarmishyn, Aliaksandr A. Li, Cheng-Yi Hsiao, Yu-Jer Chi, Yi-Chun Lo, Tzu-Chen Dai, He-Jhen Yang, Yi-Chiang Liu, Ding-Hao Hwang, De-Kuang Chen, Shih-Jen Hsu, Chih-Chien Kao, Chung-Lan |
author_sort | Chang, Kao-Jung |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-9456058 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-94560582022-09-09 Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology Chang, Kao-Jung Wu, Hsin-Yu Yarmishyn, Aliaksandr A. Li, Cheng-Yi Hsiao, Yu-Jer Chi, Yi-Chun Lo, Tzu-Chen Dai, He-Jhen Yang, Yi-Chiang Liu, Ding-Hao Hwang, De-Kuang Chen, Shih-Jen Hsu, Chih-Chien Kao, Chung-Lan Int J Mol Sci Review 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. MDPI 2022-08-26 /pmc/articles/PMC9456058/ /pubmed/36077104 http://dx.doi.org/10.3390/ijms23179707 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Review Chang, Kao-Jung Wu, Hsin-Yu Yarmishyn, Aliaksandr A. Li, Cheng-Yi Hsiao, Yu-Jer Chi, Yi-Chun Lo, Tzu-Chen Dai, He-Jhen Yang, Yi-Chiang Liu, Ding-Hao Hwang, De-Kuang Chen, Shih-Jen Hsu, Chih-Chien Kao, Chung-Lan Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology |
title | Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology |
title_full | Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology |
title_fullStr | Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology |
title_full_unstemmed | Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology |
title_short | Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology |
title_sort | genetics behind cerebral disease with ocular comorbidity: finding parallels between the brain and eye molecular pathology |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9456058/ https://www.ncbi.nlm.nih.gov/pubmed/36077104 http://dx.doi.org/10.3390/ijms23179707 |
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