scholarly journals Nonsense suppression induced readthrough of a novel PAX6 mutation in patient‐derived cells of congenital aniridia

2020 ◽  
Vol 8 (5) ◽  
Author(s):  
Xiaoliang Liu ◽  
Yuanyuan Zhang ◽  
Bijun Zhang ◽  
Haiming Gao ◽  
Chuang Qiu
Keyword(s):  
Nonsense Suppression ◽  
Congenital Aniridia ◽  
Pax6 Mutation

A novel PAX6 mutation causes congenital aniridia with or without retinal detachment

2019 ◽  
Vol 40 (2) ◽  
pp. 146-149 ◽  
Author(s):  
Mehraban Mirrahimi ◽  
Hamideh Sabbaghi ◽  
Hamid Ahmadieh ◽  
Mehdi Jahanmard ◽  
Kiana Hassanpour ◽  
...  
Keyword(s):  
Retinal Detachment ◽  
Congenital Aniridia ◽  
Pax6 Mutation

scholarly journals Detection of a novel PAX6 mutation in a Chinese family with multiple ocular abnormalities

2021 ◽  
Author(s):  
Junyi Ouyang ◽  
Ziyan Cai ◽  
Yinjie Guo ◽  
Fen Nie ◽  
Mengdan Cao ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Chinese Family ◽  
Genetic Mutations ◽  
Anterior Chamber Angle ◽  
Loss Of Function ◽  
Heterozygous Deletion ◽  
Congenital Aniridia ◽  
Foveal Hypoplasia ◽  
Generation Sequencing ◽  
Pax6 Mutation

Abstract Background: Aniridia is a congenital,panocular disease affecting the cornea,anterior chamber angle,iris,lens,retina and optic nerve.PAX6 loss-of-function mutations were the most common cause of aniridia.Mutations throughout the PAX6 gene have been linked to a range of ophthalmic abnormalities,with distinct mutations at a given site within this gene leading to distinct phenotypic findings.This study aimed to characterize genetic mutations associated with congenital aniridia in a Chinese family. Methods: The proband and the proband’s brother of this family underwent comprehensive ophthalmologic examinations as well as exome sequencing,with Next Generation Sequencing being used to confirm these results. Results: A novel mutation(c.114_119delinsAATTTCC:p.Pro39fs)in the PAX6 gene was identified in subjects III-2 and III-3 in these family,and both of these subjects exhibited completeaniridia,cataracts,glaucoma,high myopia,and foveal hypoplasia. Conclusions We identified a novel PAX6 frameshift heterozygous deletion mutation in a Chinese family and determined that this mutation was a probable cause of various eye abnormalities in carriers.

scholarly journals Detection of a novel PAX6 mutation in a Chinese family with multiple ocular abnormalities

2020 ◽  
Author(s):  
Junyi Ouyang ◽  
Ziyan Cai ◽  
Yinjie Guo ◽  
Fen Nie ◽  
Mengdan Cao ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Chinese Family ◽  
Pax6 Gene ◽  
Anterior Chamber Angle ◽  
Loss Of Function ◽  
Heterozygous Deletion ◽  
Congenital Aniridia ◽  
Foveal Hypoplasia ◽  
Generation Sequencing ◽  
Pax6 Mutation

Abstract Background: Aniridia is a congenital, panocular disease affecting the cornea, anterior chamber angle, iris, lens, retina and optic nerve. PAX6 loss-of-function mutations were the most common cause of aniridia .Mutations throughout the PAX6 gene have been linked to a range of ophthalmic abnormalities, with distinct mutations at a given site within this gene leading to distinct phenotypic findings.This s tudy aimed to characterize genetic mutations associated with congenital aniridia in a Chinese family. Methods: The proband and the proband’s brother of this family underwent comprehensive ophthalmologic examinations as well as exome sequencing, with Next Generation Sequencing being used to confirm these results. Results: A novel mutation (c.114_119delinsAATTTCC:p.Pro39fs) in the PAX6 gene was identified in subjects III-2 and III-3 in these family, and both of these subjects exhibited complete aniridia, cataracts, glaucoma, high myopia, and foveal hypoplasia. Conclusions: We identified a novel PAX6 frameshift heterozygous deletion mutation in a Chinese family and determined that this mutation was a probable cause of various eye abnormalities in carriers.

scholarly journals A rare PAX6 mutation in a Chinese family with congenital aniridia

2015 ◽  
Vol 14 (4) ◽  
pp. 13328-13336
Author(s):  
F. He ◽  
D.L. Liu ◽  
M.P. Chen ◽  
L. Liu ◽  
L. Lu ◽  
...  
Keyword(s):  
Chinese Family ◽  
Congenital Aniridia ◽  
Pax6 Mutation

scholarly journals Detection of a  novel PAX6 mutation  in a Chinese family with multiple ocular abnormalities

2020 ◽  
Author(s):  
Junyi Ouyang ◽  
Ziyan Cai ◽  
Yinjie Guo ◽  
Fen Nie ◽  
Mengdan Cao ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Chinese Family ◽  
Genetic Mutations ◽  
Anterior Chamber Angle ◽  
Loss Of Function ◽  
Heterozygous Deletion ◽  
Congenital Aniridia ◽  
Foveal Hypoplasia ◽  
Generation Sequencing ◽  
Pax6 Mutation

Abstract Background Aniridia is a congenital,panocular disease affecting the cornea,anterior chamber angle,iris,lens,retina and optic nerve.PAX6 loss-of-function mutations were the most common cause of aniridia.Mutations throughout the PAX6 gene have been linked to a range of ophthalmic abnormalities,with distinct mutations at a given site within this gene leading to distinct phenotypic findings.This study aimed to characterize genetic mutations associated with congenital aniridia in a Chinese family.MethodsThe proband and the proband’s brother of this family underwent comprehensive ophthalmologic examinations as well as exome sequencing,with Next Generation Sequencing being used to confirm these results.Results A novel mutation(c.114_119delinsAATTTCC:p.Pro39fs)in the PAX6 gene was identified in subjects III-2 and III-3 in these family,and both of these subjects exhibited completeaniridia,cataracts,glaucoma,high myopia,and foveal hypoplasia.Conclusions We identified a novel PAX6 frameshift heterozygous deletion mutation in a Chinese family and determined that this mutation was a probable cause of various eye abnormalities in carriers.

scholarly journals Detection of A Novel PAX6 Mutation In A Chinese Family With Multiple Ocular Abnormalities

2021 ◽  
Author(s):  
Junyi Ouyang ◽  
Ziyan Cai ◽  
Yinjie Guo ◽  
Fen Nie ◽  
Mengdan Cao ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Chinese Family ◽  
Anterior Chamber Angle ◽  
Loss Of Function ◽  
Heterozygous Deletion ◽  
Health Related ◽  
Congenital Aniridia ◽  
Foveal Hypoplasia ◽  
Generation Sequencing ◽  
Pax6 Mutation

Abstract Background:Aniridia is a congenital, panocular disease which could affect cornea, anterior chamber angle, iris, lens, retina and optic nerve. PAX6 loss-of-function mutations were the most common cause of aniridia. Mutations throughout the PAX6 gene have been linked to a range of ophthalmic abnormalities. Distinct mutations at a given site in PAX6 lead to distinctive phenotypic findings. This study aimed to characterize genetic mutations associated with congenital aniridia in a Chinese family.Methods:The proband and family underwent ophthalmologic examinations as well as exome sequencing. Results have been confirmed by Next Generation Sequencing.Results:A novel mutation(c.114_119delinsAATTTCC:p.Pro39llefsTer17)in the PAX6 gene was identified in subjectsⅡ-1, III-1 and III-2 in these family who exhibited complete aniridia and cataract. Proband and the proband’s brother also exhibited glaucoma, high myopia, and foveal hypoplasia.Conclusions：We identified a novel PAX6 frameshift heterozygous deletion mutation in a Chinese family and infered this mutation a probable cause of various eye abnormalities in carriers. Trial registration：We did not do any health-related interventions on the participants.

scholarly journals Detection of a novel PAX6 mutation in a Chinese family with multiple ocular abnormalities

2020 ◽  
Author(s):  
Junyi Ouyang ◽  
Ziyan Cai ◽  
Yinjie Guo ◽  
Fen Nie ◽  
Mengdan Cao ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Chinese Family ◽  
Genetic Mutations ◽  
Anterior Chamber Angle ◽  
Loss Of Function ◽  
Heterozygous Deletion ◽  
Congenital Aniridia ◽  
Foveal Hypoplasia ◽  
Generation Sequencing ◽  
Pax6 Mutation

Abstract Background: Aniridia is a congenital,panocular disease affecting the cornea,anterior chamber angle,iris,lens,retina and optic nerve.PAX6 loss-of-function mutations were the most common cause of aniridia.Mutations throughout the PAX6 gene have been linked to a range of ophthalmic abnormalities,with distinct mutations at a given site within this gene leading to distinct phenotypic findings.This study aimed to characterize genetic mutations associated with congenital aniridia in a Chinese family.Methods:The proband and the proband’s brother of this family underwent comprehensive ophthalmologic examinations as well as exome sequencing,with Next Generation Sequencing being used to confirm these results.Results: A novel mutation(c.114_119delinsAATTTCC:p.Pro39fs)in the PAX6 gene was identified in subjects III-2 and III-3 in these family,and both of these subjects exhibited completeaniridia,cataracts,glaucoma,high myopia,and foveal hypoplasia.Conclusions: We identified a novel PAX6 frameshift heterozygous deletion mutation in a Chinese family and determined that this mutation was a probable cause of various eye abnormalities in carriers.

PAX6 Mutations and Clinical Features of Congenital Aniridia

2008 ◽  
Vol 49 (11) ◽  
pp. 1794 ◽  
Author(s):  
Jong Ho Kim ◽  
Bo Sung Hwang ◽  
Jung Ho Lee ◽  
Soon Cheol Cha
Keyword(s):  
Clinical Features ◽  
Congenital Aniridia

Results of cataract surgery of patients with congenital aniridia in pediatric practice

2019 ◽  
Vol 30 (5) ◽  
pp. 20-23
Author(s):  
A.A. Voskresenskaya ◽  
◽  
Y.N. Batkov ◽  
T.F. Vasilyeva ◽  
N.A. Pozdeyeva ◽  
...  
Keyword(s):  
Cataract Surgery ◽  
Pediatric Practice ◽  
Congenital Aniridia
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