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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...

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Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
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.
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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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