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Eyes on CHARGE syndrome: Roles of CHD7 in ocular development
The development of the vertebrate visual system involves complex morphogenetic interactions of cells derived from multiple embryonic lineages. Disruptions in this process are associated with structural birth defects such as microphthalmia, anophthalmia, and coloboma (collectively referred to as MAC)...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2022
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9512043/ https://www.ncbi.nlm.nih.gov/pubmed/36172288 http://dx.doi.org/10.3389/fcell.2022.994412 |
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author | Krueger, Laura A. Morris, Ann C. |
author_facet | Krueger, Laura A. Morris, Ann C. |
author_sort | Krueger, Laura A. |
collection | PubMed |
description | The development of the vertebrate visual system involves complex morphogenetic interactions of cells derived from multiple embryonic lineages. Disruptions in this process are associated with structural birth defects such as microphthalmia, anophthalmia, and coloboma (collectively referred to as MAC), and inherited retinal degenerative diseases such as retinitis pigmentosa and allied dystrophies. MAC and retinal degeneration are also observed in systemic congenital malformation syndromes. One important example is CHARGE syndrome, a genetic disorder characterized by coloboma, heart defects, choanal atresia, growth retardation, genital abnormalities, and ear abnormalities. Mutations in the gene encoding Chromodomain helicase DNA binding protein 7 (CHD7) cause the majority of CHARGE syndrome cases. However, the pathogenetic mechanisms that connect loss of CHD7 to the ocular complications observed in CHARGE syndrome have not been identified. In this review, we provide a general overview of ocular development and congenital disorders affecting the eye. This is followed by a comprehensive description of CHARGE syndrome, including discussion of the spectrum of ocular defects that have been described in this disorder. In addition, we discuss the current knowledge of CHD7 function and focus on its contributions to the development of ocular structures. Finally, we discuss outstanding gaps in our knowledge of the role of CHD7 in eye formation, and propose avenues of investigation to further our understanding of how CHD7 activity regulates ocular and retinal development. |
format | Online Article Text |
id | pubmed-9512043 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-95120432022-09-27 Eyes on CHARGE syndrome: Roles of CHD7 in ocular development Krueger, Laura A. Morris, Ann C. Front Cell Dev Biol Cell and Developmental Biology The development of the vertebrate visual system involves complex morphogenetic interactions of cells derived from multiple embryonic lineages. Disruptions in this process are associated with structural birth defects such as microphthalmia, anophthalmia, and coloboma (collectively referred to as MAC), and inherited retinal degenerative diseases such as retinitis pigmentosa and allied dystrophies. MAC and retinal degeneration are also observed in systemic congenital malformation syndromes. One important example is CHARGE syndrome, a genetic disorder characterized by coloboma, heart defects, choanal atresia, growth retardation, genital abnormalities, and ear abnormalities. Mutations in the gene encoding Chromodomain helicase DNA binding protein 7 (CHD7) cause the majority of CHARGE syndrome cases. However, the pathogenetic mechanisms that connect loss of CHD7 to the ocular complications observed in CHARGE syndrome have not been identified. In this review, we provide a general overview of ocular development and congenital disorders affecting the eye. This is followed by a comprehensive description of CHARGE syndrome, including discussion of the spectrum of ocular defects that have been described in this disorder. In addition, we discuss the current knowledge of CHD7 function and focus on its contributions to the development of ocular structures. Finally, we discuss outstanding gaps in our knowledge of the role of CHD7 in eye formation, and propose avenues of investigation to further our understanding of how CHD7 activity regulates ocular and retinal development. Frontiers Media S.A. 2022-09-08 /pmc/articles/PMC9512043/ /pubmed/36172288 http://dx.doi.org/10.3389/fcell.2022.994412 Text en Copyright © 2022 Krueger and Morris. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Cell and Developmental Biology Krueger, Laura A. Morris, Ann C. Eyes on CHARGE syndrome: Roles of CHD7 in ocular development |
title | Eyes on CHARGE syndrome: Roles of CHD7 in ocular development |
title_full | Eyes on CHARGE syndrome: Roles of CHD7 in ocular development |
title_fullStr | Eyes on CHARGE syndrome: Roles of CHD7 in ocular development |
title_full_unstemmed | Eyes on CHARGE syndrome: Roles of CHD7 in ocular development |
title_short | Eyes on CHARGE syndrome: Roles of CHD7 in ocular development |
title_sort | eyes on charge syndrome: roles of chd7 in ocular development |
topic | Cell and Developmental Biology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9512043/ https://www.ncbi.nlm.nih.gov/pubmed/36172288 http://dx.doi.org/10.3389/fcell.2022.994412 |
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