Familial Exudative Vitreoretinopathy-Related Disease-Causing Genes and Norrin/β-Catenin Signal Pathway: Structure, Function, and Mutation Spectrums

Familial Exudative Vitreoretinopathy-Related Disease-Causing Genes and Norrin/β-Catenin Signal Pathway: Structure, Function, and Mutation Spectrums

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 Norr...

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Main Authors: Hongtao Xiao, Yuna Tong, Yuxuan Zhu, Min Peng
Format: Article
Language:English
Published: Hindawi Limited 2019-01-01
Series:Journal of Ophthalmology
Online Access:http://dx.doi.org/10.1155/2019/5782536
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spelling doaj-befbf171728e4641aa3f8a54207d58662020-11-25T02:19:18ZengHindawi LimitedJournal of Ophthalmology2090-004X2090-00582019-01-01201910.1155/2019/57825365782536Familial Exudative Vitreoretinopathy-Related Disease-Causing Genes and Norrin/β-Catenin Signal Pathway: Structure, Function, and Mutation SpectrumsHongtao Xiao0Yuna Tong1Yuxuan Zhu2Min Peng3Department of Pharmacy, Sichuan Cancer Hospital & Institute, Sichuan Cancer Center, School of Medicine, University of Electronic Science and Technology of China, Chengdu, ChinaDepartment of Nephrology, The Third People’s Hospital of Chengdu, Chengdu 610031, ChinaPersonalized Drug Therapy Key Laboratory of Sichuan Province, Chengdu 610072, ChinaDepartment of Stomatology, Sichuan Academy of Medical Sciences and Sichuan Provincial People’s Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu 610072, ChinaFamilial 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.http://dx.doi.org/10.1155/2019/5782536
collection DOAJ
language English
format Article
sources DOAJ
author Hongtao Xiao
Yuna Tong
Yuxuan Zhu
Min Peng
spellingShingle Hongtao Xiao
Yuna Tong
Yuxuan Zhu
Min Peng
Familial Exudative Vitreoretinopathy-Related Disease-Causing Genes and Norrin/β-Catenin Signal Pathway: Structure, Function, and Mutation Spectrums
Journal of Ophthalmology
author_facet Hongtao Xiao
Yuna Tong
Yuxuan Zhu
Min Peng
author_sort Hongtao Xiao
title Familial Exudative Vitreoretinopathy-Related Disease-Causing Genes and Norrin/β-Catenin Signal Pathway: Structure, Function, and Mutation Spectrums
title_short Familial Exudative Vitreoretinopathy-Related Disease-Causing Genes and Norrin/β-Catenin Signal Pathway: Structure, Function, and Mutation Spectrums
title_full Familial Exudative Vitreoretinopathy-Related Disease-Causing Genes and Norrin/β-Catenin Signal Pathway: Structure, Function, and Mutation Spectrums
title_fullStr Familial Exudative Vitreoretinopathy-Related Disease-Causing Genes and Norrin/β-Catenin Signal Pathway: Structure, Function, and Mutation Spectrums
title_full_unstemmed Familial Exudative Vitreoretinopathy-Related Disease-Causing Genes and Norrin/β-Catenin Signal Pathway: Structure, Function, and Mutation Spectrums
title_sort familial exudative vitreoretinopathy-related disease-causing genes and norrin/β-catenin signal pathway: structure, function, and mutation spectrums
publisher Hindawi Limited
series Journal of Ophthalmology
issn 2090-004X
2090-0058
publishDate 2019-01-01
description 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.
url http://dx.doi.org/10.1155/2019/5782536
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AT yunatong familialexudativevitreoretinopathyrelateddiseasecausinggenesandnorrinbcateninsignalpathwaystructurefunctionandmutationspectrums
AT yuxuanzhu familialexudativevitreoretinopathyrelateddiseasecausinggenesandnorrinbcateninsignalpathwaystructurefunctionandmutationspectrums
AT minpeng familialexudativevitreoretinopathyrelateddiseasecausinggenesandnorrinbcateninsignalpathwaystructurefunctionandmutationspectrums
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