2022
DOI: 10.3389/fcell.2022.994412
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Eyes on CHARGE syndrome: Roles of CHD7 in ocular development

Abstract: 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 … Show more

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Cited by 6 publications
(5 citation statements)
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“…Eye is a derivative organ of the central nervous system, and CHARGE syndrome patients often have congenital eye disability (Krueger & Morris, 2022). Therefore, we explored the expression of reporter genes in retina.…”
Section: Resultsmentioning
confidence: 99%
“…Eye is a derivative organ of the central nervous system, and CHARGE syndrome patients often have congenital eye disability (Krueger & Morris, 2022). Therefore, we explored the expression of reporter genes in retina.…”
Section: Resultsmentioning
confidence: 99%
“…The CHD7 protein belongs to a member of CHD7 family which contains four major domains: two chromodomains, an SNF2 family N-terminal domain, a helicase ATP binding domain, and two BRK do-mains [ 37 ]. CHD7 has been shown to play a critical role in chromatin remodeling, apoptosis, cell cycle regulation, transcription, and embryonic stem cell differentiation [ 38 , 39 ]. Pathogenic CHD7 mutations are often de novo nonsense or frameshift mutations, which may lead to the loss of function of protein products due to translational termination, resulting in CHD7 haploid deficiency [ 40 ].…”
Section: Discussionmentioning
confidence: 99%
“…The development of ocular structures and retinal cells necessitates precise spatial and temporal organization. Disruptions in these dynamics can result in congenital ocular and retinal defects, often leading to visual impairment (Krueger & Morris, 2022 ). A known cause of congenital ocular coloboma is the failure to close the choroid fissure (Ohuchi et al., 2019 ).…”
Section: Discussionmentioning
confidence: 99%
“…It is also observed in few syndromic inherited eye diseases. CHARGE syndrome, an AD genetic disorder, is caused by variants in the chromodomain helicase DNA binding protein 7 ( CHD7 ), a critical gene for normal development (Krueger & Morris, 2022 ). Ocular features of CHARGE syndrome are MAC, including IBD (Hsu et al., 2014 ).…”
Section: Discussionmentioning
confidence: 99%