Familial Exudative Vitreoretinopathy-Related Disease-Causing Genes and Norrinβ-Catenin Signal Pathway: Structure, Function, and Mutation Spectrums
Joint Authors
Xiao, Hong-Tao
Peng, Min
Tong, Yuna
Zhu, Yuxuan
Source
Issue
Vol. 2019, Issue 2019 (31 Dec. 2019), pp.1-24, 24 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2019-11-16
Country of Publication
Egypt
No. of Pages
24
Main Subjects
Abstract EN
Familial exudative vitreoretinopathy (FEVR) is a hereditary ocular disorder characterized by incomplete vascularization/abnormality of peripheral retina.
Four of the identified disease-causing genes of FEVR were NDP, FZD4, LRP5, and TSPAN12, the protein coded by which were the components of the Norrin/β-catenin signal pathway.
In this review, we summarized and discussed the spectrum of mutations involving these four genes.
By the end of 2017, the number of FEVR causing mutations reported for NDP, FZD4, LRP5, and TSPAN12 was, respectively, 26, 121, 58, and 40.
Three most frequently reported mutations were c.
362G > A (p.R121Q) of NDP, c.
313A > G (p.M105V), and c.1282_1285delGACA (p.D428SfsX2) of FZD4.
Mutations have a tendency to cluster in some “hotspots” domains which may be responsible for protein interactions.
American Psychological Association (APA)
Xiao, Hong-Tao& Tong, Yuna& Zhu, Yuxuan& Peng, Min. 2019. Familial Exudative Vitreoretinopathy-Related Disease-Causing Genes and Norrinβ-Catenin Signal Pathway: Structure, Function, and Mutation Spectrums. Journal of Ophthalmology،Vol. 2019, no. 2019, pp.1-24.
https://search.emarefa.net/detail/BIM-1185820
Modern Language Association (MLA)
Xiao, Hong-Tao…[et al.]. Familial Exudative Vitreoretinopathy-Related Disease-Causing Genes and Norrinβ-Catenin Signal Pathway: Structure, Function, and Mutation Spectrums. Journal of Ophthalmology No. 2019 (2019), pp.1-24.
https://search.emarefa.net/detail/BIM-1185820
American Medical Association (AMA)
Xiao, Hong-Tao& Tong, Yuna& Zhu, Yuxuan& Peng, Min. Familial Exudative Vitreoretinopathy-Related Disease-Causing Genes and Norrinβ-Catenin Signal Pathway: Structure, Function, and Mutation Spectrums. Journal of Ophthalmology. 2019. Vol. 2019, no. 2019, pp.1-24.
https://search.emarefa.net/detail/BIM-1185820
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1185820