Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/199602
Type: Artigo de periódico
Title: Novel Human Crygd Rare Variant In A Brazilian Family With Congenital Cataract.
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
Abstract: To describe a novel polymorphism in the γD-crystallin (CRYGD) gene in a Brazilian family with congenital cataract. 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. 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. 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.
Subject: Adult
Base Sequence
Brazil
Case-control Studies
Cataract
Crystallins
Dna Mutational Analysis
Family
Female
Genotype
Heterozygote
Humans
Infant, Newborn
Male
Molecular Sequence Data
Mutation, Missense
Pedigree
Phenotype
Polymerase Chain Reaction
Sequence Alignment
Gamma-crystallins
Rights: aberto
Identifier DOI: 
Address: http://www.ncbi.nlm.nih.gov/pubmed/21866214
Date Issue: 2011
Appears in Collections:Unicamp - Artigos e Outros Documentos

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