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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Autores principales:	Zilin Zhong, Zehua Wu, Liyun Han, Jianjun Chen
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2017
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/1107ecf7ab9244b1838a9a120dac1558
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spelling	oai:doaj.org-article:1107ecf7ab9244b1838a9a120dac15582021-12-02T15:06:10ZNovel mutations in CRYGC are associated with congenital cataracts in Chinese families10.1038/s41598-017-00318-12045-2322https://doaj.org/article/1107ecf7ab9244b1838a9a120dac15582017-03-01T00:00:00Zhttps://doi.org/10.1038/s41598-017-00318-1https://doaj.org/toc/2045-2322Abstract 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.Zilin ZhongZehua WuLiyun HanJianjun ChenNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 7, Iss 1, Pp 1-7 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Zilin Zhong Zehua Wu Liyun Han Jianjun Chen Novel mutations in CRYGC are associated with congenital cataracts in Chinese families
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.
format	article
author	Zilin Zhong Zehua Wu Liyun Han Jianjun Chen
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 Portfolio
publishDate	2017
url	https://doaj.org/article/1107ecf7ab9244b1838a9a120dac1558
work_keys_str_mv	AT zilinzhong novelmutationsincrygcareassociatedwithcongenitalcataractsinchinesefamilies AT zehuawu novelmutationsincrygcareassociatedwithcongenitalcataractsinchinesefamilies AT liyunhan novelmutationsincrygcareassociatedwithcongenitalcataractsinchinesefamilies AT jianjunchen novelmutationsincrygcareassociatedwithcongenitalcataractsinchinesefamilies
_version_	1718388561470816256

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

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