Novel mutations in CRYGC are associated with congenital cataracts in Chinese families

Abstract Congenital cataract (CC), responsible for about one-third of blindness in infants, is a major cause of vision loss in children worldwide. 10–25% of CC cases are attributed to genetic causes and CC is a clinically and genetically highly heterogeneous lens disorder in children. Autosomal domi...

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Main Authors: Zilin Zhong, Zehua Wu, Liyun Han, Jianjun Chen
Format: Article
Language:English
Published: Nature Publishing Group 2017-03-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-017-00318-1
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spelling doaj-1107ecf7ab9244b1838a9a120dac15582020-12-08T01:17:56ZengNature Publishing GroupScientific Reports2045-23222017-03-01711710.1038/s41598-017-00318-1Novel mutations in CRYGC are associated with congenital cataracts in Chinese familiesZilin Zhong0Zehua Wu1Liyun Han2Jianjun Chen3Department of Ophthalmology of Shanghai Tenth People’s Hospital, and Tongji Eye Institute, Tongji University School of MedicineDepartment of Ophthalmology of Shanghai Tenth People’s Hospital, and Tongji Eye Institute, Tongji University School of MedicineDepartment of Ophthalmology of Shanghai Tenth People’s Hospital, and Tongji Eye Institute, Tongji University School of MedicineDepartment of Ophthalmology of Shanghai Tenth People’s Hospital, and Tongji Eye Institute, Tongji University School of MedicineAbstract Congenital cataract (CC), responsible for about one-third of blindness in infants, is a major cause of vision loss in children worldwide. 10–25% of CC cases are attributed to genetic causes and CC is a clinically and genetically highly heterogeneous lens disorder in children. Autosomal dominant (AD) inheritance is the most commonly pattern. 195 unrelated non-syndromic ADCC families in this study are recruited from 15 provinces of China. Sanger sequencing approach followed by intra-familial co-segregation, in Silico analyses and interpretation of the variations according to the published guidelines of American College of Medical Genetics (ACMG), were employed to determine the genetic defects. Two mutations (p.Tyr139X and p.Ser166Phe) identified in two unrelated families were associated with their congenital nuclear cataracts and microcornea respectively, which are also reported previously. Six novel CRYGC mutations (p.Asp65ThrfsX38, p.Arg142GlyfsX5, p.Arg142AlafsX22, p.Tyr144X, p.Arg169X, and p.Tyr46Asp) were identified in other six families with congenital nuclear cataracts, respectively. Mutations in the CRYGC were responsible for 4.1% Chinese ADCC families in our cohort. Our results expand the spectrum of CRYGC mutations as well as their associated phenotypes.https://doi.org/10.1038/s41598-017-00318-1
collection DOAJ
language English
format Article
sources DOAJ
author Zilin Zhong
Zehua Wu
Liyun Han
Jianjun Chen
spellingShingle Zilin Zhong
Zehua Wu
Liyun Han
Jianjun Chen
Novel mutations in CRYGC are associated with congenital cataracts in Chinese families
Scientific Reports
author_facet Zilin Zhong
Zehua Wu
Liyun Han
Jianjun Chen
author_sort Zilin Zhong
title Novel mutations in CRYGC are associated with congenital cataracts in Chinese families
title_short Novel mutations in CRYGC are associated with congenital cataracts in Chinese families
title_full Novel mutations in CRYGC are associated with congenital cataracts in Chinese families
title_fullStr Novel mutations in CRYGC are associated with congenital cataracts in Chinese families
title_full_unstemmed Novel mutations in CRYGC are associated with congenital cataracts in Chinese families
title_sort novel mutations in crygc are associated with congenital cataracts in chinese families
publisher Nature Publishing Group
series Scientific Reports
issn 2045-2322
publishDate 2017-03-01
description Abstract Congenital cataract (CC), responsible for about one-third of blindness in infants, is a major cause of vision loss in children worldwide. 10–25% of CC cases are attributed to genetic causes and CC is a clinically and genetically highly heterogeneous lens disorder in children. Autosomal dominant (AD) inheritance is the most commonly pattern. 195 unrelated non-syndromic ADCC families in this study are recruited from 15 provinces of China. Sanger sequencing approach followed by intra-familial co-segregation, in Silico analyses and interpretation of the variations according to the published guidelines of American College of Medical Genetics (ACMG), were employed to determine the genetic defects. Two mutations (p.Tyr139X and p.Ser166Phe) identified in two unrelated families were associated with their congenital nuclear cataracts and microcornea respectively, which are also reported previously. Six novel CRYGC mutations (p.Asp65ThrfsX38, p.Arg142GlyfsX5, p.Arg142AlafsX22, p.Tyr144X, p.Arg169X, and p.Tyr46Asp) were identified in other six families with congenital nuclear cataracts, respectively. Mutations in the CRYGC were responsible for 4.1% Chinese ADCC families in our cohort. Our results expand the spectrum of CRYGC mutations as well as their associated phenotypes.
url https://doi.org/10.1038/s41598-017-00318-1
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