Novel Likely Pathogenic Variants Identified by Panel-Based Exome Sequencing in Congenital Cataract Patients

Purpose. To identify likely pathogenic variants in three families with congenital cataracts via panel-based exome sequencing. Methods. A panel containing 153 genes associated with congenital cataracts was designed. Genes were selected through reference to databases including the Human Gene Mutation...

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Autores principales:	Doudou Chen, Tao Yang, Siquan Zhu
Formato:	article
Lenguaje:	EN
Publicado:	Hindawi Limited 2021
Materias:	Ophthalmology RE1-994
Acceso en línea:	https://doaj.org/article/0633a3cd71be415796bcaf186ce92334
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spelling	oai:doaj.org-article:0633a3cd71be415796bcaf186ce923342021-11-29T00:56:17ZNovel Likely Pathogenic Variants Identified by Panel-Based Exome Sequencing in Congenital Cataract Patients2090-005810.1155/2021/3847409https://doaj.org/article/0633a3cd71be415796bcaf186ce923342021-01-01T00:00:00Zhttp://dx.doi.org/10.1155/2021/3847409https://doaj.org/toc/2090-0058Purpose. To identify likely pathogenic variants in three families with congenital cataracts via panel-based exome sequencing. Methods. A panel containing 153 genes associated with congenital cataracts was designed. Genes were selected through reference to databases including the Human Gene Mutation Database (HGMD), Online Mendelian Inheritance in Man (OMIM), Genetic Home Reference, and the latest peer-reviewed publications on the genetics of hereditary cataracts. Panel-based exome sequencing was performed with the Illumina HiSeq X-Ten platform, and then the identified variants were confirmed with Sanger sequencing and evaluated according to the American College of Medical Genetics and Genomics (ACMG) criteria. Results. Three likely pathogenic variants were found. A novel CRYBB2: c.230G > T p.G77V variant was identified in family A, a novel CRYBB2: c.230G > A p.G77D variant was identified in family B, and a novel CRYGD: c.475delG p.A159Pfs∗9 variant was identified in family C. Conclusion. Panel-based exome sequencing revealed three likely pathogenic variants in three unrelated Chinese families with congenital cataracts. These data expand the genetic spectrum associated with congenital cataracts.Doudou ChenTao YangSiquan ZhuHindawi LimitedarticleOphthalmologyRE1-994ENJournal of Ophthalmology, Vol 2021 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Ophthalmology RE1-994
spellingShingle	Ophthalmology RE1-994 Doudou Chen Tao Yang Siquan Zhu Novel Likely Pathogenic Variants Identified by Panel-Based Exome Sequencing in Congenital Cataract Patients
description	Purpose. To identify likely pathogenic variants in three families with congenital cataracts via panel-based exome sequencing. Methods. A panel containing 153 genes associated with congenital cataracts was designed. Genes were selected through reference to databases including the Human Gene Mutation Database (HGMD), Online Mendelian Inheritance in Man (OMIM), Genetic Home Reference, and the latest peer-reviewed publications on the genetics of hereditary cataracts. Panel-based exome sequencing was performed with the Illumina HiSeq X-Ten platform, and then the identified variants were confirmed with Sanger sequencing and evaluated according to the American College of Medical Genetics and Genomics (ACMG) criteria. Results. Three likely pathogenic variants were found. A novel CRYBB2: c.230G > T p.G77V variant was identified in family A, a novel CRYBB2: c.230G > A p.G77D variant was identified in family B, and a novel CRYGD: c.475delG p.A159Pfs∗9 variant was identified in family C. Conclusion. Panel-based exome sequencing revealed three likely pathogenic variants in three unrelated Chinese families with congenital cataracts. These data expand the genetic spectrum associated with congenital cataracts.
format	article
author	Doudou Chen Tao Yang Siquan Zhu
author_facet	Doudou Chen Tao Yang Siquan Zhu
author_sort	Doudou Chen
title	Novel Likely Pathogenic Variants Identified by Panel-Based Exome Sequencing in Congenital Cataract Patients
title_short	Novel Likely Pathogenic Variants Identified by Panel-Based Exome Sequencing in Congenital Cataract Patients
title_full	Novel Likely Pathogenic Variants Identified by Panel-Based Exome Sequencing in Congenital Cataract Patients
title_fullStr	Novel Likely Pathogenic Variants Identified by Panel-Based Exome Sequencing in Congenital Cataract Patients
title_full_unstemmed	Novel Likely Pathogenic Variants Identified by Panel-Based Exome Sequencing in Congenital Cataract Patients
title_sort	novel likely pathogenic variants identified by panel-based exome sequencing in congenital cataract patients
publisher	Hindawi Limited
publishDate	2021
url	https://doaj.org/article/0633a3cd71be415796bcaf186ce92334
work_keys_str_mv	AT doudouchen novellikelypathogenicvariantsidentifiedbypanelbasedexomesequencingincongenitalcataractpatients AT taoyang novellikelypathogenicvariantsidentifiedbypanelbasedexomesequencingincongenitalcataractpatients AT siquanzhu novellikelypathogenicvariantsidentifiedbypanelbasedexomesequencingincongenitalcataractpatients
_version_	1718407687795900416

Novel Likely Pathogenic Variants Identified by Panel-Based Exome Sequencing in Congenital Cataract Patients

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