Abstract:
Purpose:To identify potentially pathogenic variants (PPVs) in Chinese familial exudative vitreoretinopathy (FEVR) patients in FZD4, LRP5, NDP, TSPAN12, ZNF408, and KIF11 genes. Methods:Blood samples were collected from probands and their parent(s). Genomic DNA was analyzed by next-generation sequencing, and the sequence of selected variants were validated by Sanger sequencing. The potential pathogenicity of a variant was evaluated by in silico analysis and by cosegregation of the variant with disease. Each proband was subjected to comprehensive retinal examinations, and the severity of FEVR was individually graded for each eye. Whenever possible, fundus fluorescein angiography was obtained and analyzed for parent(s) of each proband. Variation in mutation expressivity was analyzed. Results:Three hundred eighty-nine consecutive FEVR patients from 389 families participated in this study. About 74% of the probands were children younger than 7 years old. One hundred one PPVs, 49 variants with unknown significance (VUS), were identified, including 73 novel PPVs and 38 novel VUS. One hundred ten probands carried PPV (28.3%), and 51 probands carried VUS (13.1%). PPVs in FZD4, LRP5, TSPAN12, NDP, ZNF408, and KIF11 were found in 8.48%, 9.00%, 5.91%, 4.63%, 0.77%, and 0.77% of the cohort, respectively. Probands carrying PPVs in NDP and KIF11 had more severe FEVR in general than those carrying PPVs in other genes. Overall, variants in LRP5 and FZD4 showed more significant variation in phenotype than variants in TSPAN12 and NDP genes. Conclusions:Our study expanded the spectrum of PPVs associated with FEVR.
journal_name
Invest Ophthalmol Vis Scijournal_title
Investigative ophthalmology & visual scienceauthors
Li JK,Li Y,Zhang X,Chen CL,Rao YQ,Fei P,Zhang Q,Zhao P,Li Jdoi
10.1167/iovs.17-23541subject
Has Abstractpub_date
2018-11-01 00:00:00pages
5368-5381issue
13eissn
0146-0404issn
1552-5783pii
2714588journal_volume
59pub_type
杂志文章abstract:PURPOSE:To establish an experimental mouse model of retinal detachment (RD) created by corneal puncture (CP). METHODS:Mouse corneas were punctured with a 30.5-gauge beveled needle, and the anterior chamber was penetrated. Histologic and functional changes of the retina were examined by light microscopy and electroreti...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.11-8241
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journal_title:Investigative ophthalmology & visual science
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journal_title:Investigative ophthalmology & visual science
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doi:
更新日期:1978-06-01 00:00:00
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journal_title:Investigative ophthalmology & visual science
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journal_title:Investigative ophthalmology & visual science
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journal_title:Investigative ophthalmology & visual science
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journal_title:Investigative ophthalmology & visual science
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journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1983-08-01 00:00:00
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journal_title:Investigative ophthalmology & visual science
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journal_title:Investigative ophthalmology & visual science
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doi:10.1167/iovs.03-0097
更新日期:2003-08-01 00:00:00
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journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1992-08-01 00:00:00
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journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
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更新日期:2009-06-01 00:00:00
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journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
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journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
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更新日期:2014-08-12 00:00:00
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journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
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journal_title:Investigative ophthalmology & visual science
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更新日期:2016-06-01 00:00:00
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journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1998-07-01 00:00:00
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更新日期:2016-08-01 00:00:00
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journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1994-02-01 00:00:00
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journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1988-06-01 00:00:00
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journal_title:Investigative ophthalmology & visual science
pub_type: 临床试验,杂志文章,随机对照试验
doi:
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