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Novel human CRYGD rare variant in a Brazilian family with congenital cataract
PURPOSE: To describe a novel polymorphism in the γD-crystallin (CRYGD) gene in a Brazilian family with congenital cataract. METHODS: A Brazilian four-generation family was analyzed. The proband had bilateral lamellar cataract and the phenotypes were classified by slit lamp examination. Genomic DNA w...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Molecular Vision
2011
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3159680/ https://www.ncbi.nlm.nih.gov/pubmed/21866214 |
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author | de Figueirêdo, Eugênio Santana Giordano, Gabriel Gorgone Tavares, Anderson da Silva, Márcio José de Vasconcellos, José Paulo Cabral Arieta, Carlos Eduardo Leite de Melo, Mônica Barbosa |
author_facet | de Figueirêdo, Eugênio Santana Giordano, Gabriel Gorgone Tavares, Anderson da Silva, Márcio José de Vasconcellos, José Paulo Cabral Arieta, Carlos Eduardo Leite de Melo, Mônica Barbosa |
author_sort | de Figueirêdo, Eugênio Santana |
collection | PubMed |
description | PURPOSE: To describe a novel polymorphism in the γD-crystallin (CRYGD) gene in a Brazilian family with congenital cataract. METHODS: A Brazilian four-generation family was analyzed. The proband had bilateral lamellar cataract and the phenotypes were classified by slit lamp examination. Genomic DNA was extracted from peripheral blood and coding regions and intron/exon boundaries of the αA-crystallin (CRYAA), γC-crystallin (CRYGC), and CRYGD genes were amplified by polymerase chain reaction and directly sequenced. RESULTS: Sequencing of the coding regions of CRYGD showed the presence of a heterozygous A→G transversion at c.401 position, which results in the substitution of a tyrosine to a cysteine (Y134C). The polymorphism was identified in three individuals, two affected and one unaffected. CONCLUSIONS: A novel rare variant in CRYGD (Y134C) was detected in a Brazilian family with congenital cataract. Because there is no segregation between the substitution and the phenotypes in this family, other genetic alterations are likely to be present. |
format | Online Article Text |
id | pubmed-3159680 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2011 |
publisher | Molecular Vision |
record_format | MEDLINE/PubMed |
spelling | pubmed-31596802011-08-24 Novel human CRYGD rare variant in a Brazilian family with congenital cataract de Figueirêdo, Eugênio Santana Giordano, Gabriel Gorgone Tavares, Anderson da Silva, Márcio José de Vasconcellos, José Paulo Cabral Arieta, Carlos Eduardo Leite de Melo, Mônica Barbosa Mol Vis Research Article PURPOSE: To describe a novel polymorphism in the γD-crystallin (CRYGD) gene in a Brazilian family with congenital cataract. METHODS: A Brazilian four-generation family was analyzed. The proband had bilateral lamellar cataract and the phenotypes were classified by slit lamp examination. Genomic DNA was extracted from peripheral blood and coding regions and intron/exon boundaries of the αA-crystallin (CRYAA), γC-crystallin (CRYGC), and CRYGD genes were amplified by polymerase chain reaction and directly sequenced. RESULTS: Sequencing of the coding regions of CRYGD showed the presence of a heterozygous A→G transversion at c.401 position, which results in the substitution of a tyrosine to a cysteine (Y134C). The polymorphism was identified in three individuals, two affected and one unaffected. CONCLUSIONS: A novel rare variant in CRYGD (Y134C) was detected in a Brazilian family with congenital cataract. Because there is no segregation between the substitution and the phenotypes in this family, other genetic alterations are likely to be present. Molecular Vision 2011-08-16 /pmc/articles/PMC3159680/ /pubmed/21866214 Text en Copyright © 2011 Molecular Vision. http://creativecommons.org/licenses/by/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Research Article de Figueirêdo, Eugênio Santana Giordano, Gabriel Gorgone Tavares, Anderson da Silva, Márcio José de Vasconcellos, José Paulo Cabral Arieta, Carlos Eduardo Leite de Melo, Mônica Barbosa Novel human CRYGD rare variant in a Brazilian family with congenital cataract |
title | Novel human CRYGD rare variant in a Brazilian family with congenital cataract |
title_full | Novel human CRYGD rare variant in a Brazilian family with congenital cataract |
title_fullStr | Novel human CRYGD rare variant in a Brazilian family with congenital cataract |
title_full_unstemmed | Novel human CRYGD rare variant in a Brazilian family with congenital cataract |
title_short | Novel human CRYGD rare variant in a Brazilian family with congenital cataract |
title_sort | novel human crygd rare variant in a brazilian family with congenital cataract |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3159680/ https://www.ncbi.nlm.nih.gov/pubmed/21866214 |
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