title: Novel human CRYGD rare variant in a Brazilian family with congenital cataract.
abstract: OBJECTIVE
  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.
authors.affiliation: Department of Ophthalmology, Faculty of Medical Sciences, University of Campinas - UNICAMP, Campinas, São Paulo, Brazil. eugsantana@ig.com.br
authors.forename: Eugênio Santana
authors.initials: ES
authors.lastname: de Figueirêdo
authors.forename: Gabriel Gorgone
authors.initials: GG
authors.lastname: Giordano
authors.forename: Anderson
authors.initials: A
authors.lastname: Tavares
authors.forename: Márcio José
authors.initials: MJ
authors.lastname: da Silva
authors.forename: José Paulo Cabral
authors.initials: JP
authors.lastname: de Vasconcellos
authors.forename: Carlos Eduardo Leite
authors.initials: CE
authors.lastname: Arieta
authors.forename: Mônica Barbosa
authors.initials: MB
authors.lastname: de Melo
mesh_terms: D000328:Adult; D001483:Base Sequence; D001938:Brazil; D016022:Case-Control Studies; D002386:Cataract / Q000151:congenital / Q000235:genetics*; D003459:Crystallins / Q000235:genetics; D004252:DNA Mutational Analysis; D005190:Family; D005260:Female; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction; D016415:Sequence Alignment; D038222:gamma-Crystallins / Q000235:genetics*
chemical_list: C511246:CRYAA protein, human; C504903:CRYGD protein, human; C522806:Crygc protein, human; D003459:Crystallins; D038222:gamma-Crystallins