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Case Report: A Novel Mutation in the CRYGD Gene Causing Congenital Cataract Associated with Nystagmus in a Chinese Family

Purpose: Congenital cataract (CC) is a common disease resulting in leukocoria and the leading cause of blindness in children worldwide. Approximately 50% of congenital cataract is inherited. Our aim is to identify mutations in a Chinese family with congenital cataract. Methods: A four-generation Chi...

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Autores principales: Gao, Yunxia, Ren, Xiang, Fu, Xiangyu, Lin, Yu, Xiao, Lirong, Wang, Xiaoyue, Yan, Naihong, Zhang, Ming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8866695/
https://www.ncbi.nlm.nih.gov/pubmed/35222542
http://dx.doi.org/10.3389/fgene.2022.824550
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author Gao, Yunxia
Ren, Xiang
Fu, Xiangyu
Lin, Yu
Xiao, Lirong
Wang, Xiaoyue
Yan, Naihong
Zhang, Ming
author_facet Gao, Yunxia
Ren, Xiang
Fu, Xiangyu
Lin, Yu
Xiao, Lirong
Wang, Xiaoyue
Yan, Naihong
Zhang, Ming
author_sort Gao, Yunxia
collection PubMed
description Purpose: Congenital cataract (CC) is a common disease resulting in leukocoria and the leading cause of blindness in children worldwide. Approximately 50% of congenital cataract is inherited. Our aim is to identify mutations in a Chinese family with congenital cataract. Methods: A four-generation Chinese family diagnosed with congenital cataract was recruited in West China Hospital of Sichuan University. Genomic DNA was extracted from the peripheral blood of these participants. All coding exons and flanking regions were amplified and sequenced, and the variants were validated using Sanger sequencing. AlphaFold2 was used to predict possible protein structural changes in this variant. Results: The proband had congenital nuclear cataract with nystagmus. A heterozygous variant c.233C > T was identified in exon 2 of the CRYGD gene in chromosome 2. This mutation resulted in a substitution of serine with phenylalanine at amino acid residue 78 (p.S78F). The variant might result in a less stable structure with a looser loop and broken hydrogen bond predicted by AlphaFold2, and this mutation was co-segregated with the disease phenotype in this family. Conclusion: We described cases of human congenital cataract caused by a novel mutation in the CRYGD gene and provided evidence of further phenotypic heterogeneity associated with this variant. Our study further extends the mutation spectrum of the CRYGD gene in congenital cataract.
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spelling pubmed-88666952022-02-25 Case Report: A Novel Mutation in the CRYGD Gene Causing Congenital Cataract Associated with Nystagmus in a Chinese Family Gao, Yunxia Ren, Xiang Fu, Xiangyu Lin, Yu Xiao, Lirong Wang, Xiaoyue Yan, Naihong Zhang, Ming Front Genet Genetics Purpose: Congenital cataract (CC) is a common disease resulting in leukocoria and the leading cause of blindness in children worldwide. Approximately 50% of congenital cataract is inherited. Our aim is to identify mutations in a Chinese family with congenital cataract. Methods: A four-generation Chinese family diagnosed with congenital cataract was recruited in West China Hospital of Sichuan University. Genomic DNA was extracted from the peripheral blood of these participants. All coding exons and flanking regions were amplified and sequenced, and the variants were validated using Sanger sequencing. AlphaFold2 was used to predict possible protein structural changes in this variant. Results: The proband had congenital nuclear cataract with nystagmus. A heterozygous variant c.233C > T was identified in exon 2 of the CRYGD gene in chromosome 2. This mutation resulted in a substitution of serine with phenylalanine at amino acid residue 78 (p.S78F). The variant might result in a less stable structure with a looser loop and broken hydrogen bond predicted by AlphaFold2, and this mutation was co-segregated with the disease phenotype in this family. Conclusion: We described cases of human congenital cataract caused by a novel mutation in the CRYGD gene and provided evidence of further phenotypic heterogeneity associated with this variant. Our study further extends the mutation spectrum of the CRYGD gene in congenital cataract. Frontiers Media S.A. 2022-02-10 /pmc/articles/PMC8866695/ /pubmed/35222542 http://dx.doi.org/10.3389/fgene.2022.824550 Text en Copyright © 2022 Gao, Ren, Fu, Lin, Xiao, Wang, Yan and Zhang. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Gao, Yunxia
Ren, Xiang
Fu, Xiangyu
Lin, Yu
Xiao, Lirong
Wang, Xiaoyue
Yan, Naihong
Zhang, Ming
Case Report: A Novel Mutation in the CRYGD Gene Causing Congenital Cataract Associated with Nystagmus in a Chinese Family
title Case Report: A Novel Mutation in the CRYGD Gene Causing Congenital Cataract Associated with Nystagmus in a Chinese Family
title_full Case Report: A Novel Mutation in the CRYGD Gene Causing Congenital Cataract Associated with Nystagmus in a Chinese Family
title_fullStr Case Report: A Novel Mutation in the CRYGD Gene Causing Congenital Cataract Associated with Nystagmus in a Chinese Family
title_full_unstemmed Case Report: A Novel Mutation in the CRYGD Gene Causing Congenital Cataract Associated with Nystagmus in a Chinese Family
title_short Case Report: A Novel Mutation in the CRYGD Gene Causing Congenital Cataract Associated with Nystagmus in a Chinese Family
title_sort case report: a novel mutation in the crygd gene causing congenital cataract associated with nystagmus in a chinese family
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8866695/
https://www.ncbi.nlm.nih.gov/pubmed/35222542
http://dx.doi.org/10.3389/fgene.2022.824550
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