Novel human CRYGD rare variant in a Brazilian family with congenital cataract

dc.creatorde Figueiredo, ES
dc.creatorGiordano, GG
dc.creatorTavares, A
dc.creatorda Silva, MJ
dc.creatorde Vasconcellos, JPC
dc.creatorArieta, CEL
dc.creatorde Melo, MB
dc.date2011
dc.dateAUG 16
dc.date2014-07-30T14:48:46Z
dc.date2015-11-26T17:41:33Z
dc.date2014-07-30T14:48:46Z
dc.date2015-11-26T17:41:33Z
dc.date.accessioned2018-03-29T00:23:20Z
dc.date.available2018-03-29T00:23:20Z
dc.identifierMolecular Vision. Molecular Vision, v. 17, n. 238-39, n. 2207, n. 2211, 2011.
dc.identifier1090-0535
dc.identifierWOS:000293885000002
dc.identifierhttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/62146
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/62146
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1287041
dc.descriptionPurpose: To describe a novel polymorphism in the gamma D-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 alpha A-crystallin (CRYAA), gamma C-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.
dc.description17
dc.description238-39
dc.description2207
dc.description2211
dc.languageen
dc.publisherMolecular Vision
dc.publisherAtlanta
dc.publisherEUA
dc.relationMolecular Vision
dc.relationMol. Vis.
dc.rightsfechado
dc.sourceWeb of Science
dc.subjectGenetic-heterogeneity
dc.subjectInherited Cataract
dc.subjectNuclear Cataract
dc.subjectMutation
dc.subjectLinkage
dc.subjectLens
dc.subjectCryaa
dc.titleNovel human CRYGD rare variant in a Brazilian family with congenital cataract
dc.typeArtículos de revistas


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