title: New phenotype associated with an Arg116Cys mutation in the CRYAA gene: nuclear cataract, iris coloboma, and microphthalmia.
abstract: OBJECTIVE
  To describe a new phenotype with an arginine-to-cysteine mutation at position 116 (Arg116Cys) in the CRYAA gene.
  
  
  METHODS
  We investigated a 4-generation French family with autosomal dominant cataract and performed a genetic linkage analysis using microsatellite DNA markers encompassing 15 known cataract loci. Exons 1, 2, and 3 and flanking intronic sequences of the CRYAA gene were amplified and analyzed using direct sequencing.
  
  
  RESULTS
  All of the affected individuals had nuclear cataract and iris coloboma. Genetic analysis revealed the previously described Arg116Cys mutation in the CRYAA gene in the heterozygous state in all of the affected members of the family but not in unaffected individuals.
  
  
  CONCLUSIONS
  To our knowledge, this is the first case to date in which an Arg116Cys mutation in the CRYAA gene was associated with nuclear cataract and iris coloboma.
  
  
  CONCLUSIONS
  This study indicates that an Arg116Cys mutation in the CRYAA gene could be associated with an unusual phenotype in affected individuals. In this family, the clinical observation of iris coloboma allows for the possibility of identifying individuals carrying the mutation. Iris coloboma is particularly important in terms of perinatal diagnosis because its detection in the newborn requires a careful and regular examination of the lens.
authors.affiliation: Department of Ophthalmology and Service de Cytogénétique Constitutionnelle, Edouard Herriot Hospital, Place d'Arsonval, Université Claude Bernard Lyon 1, 30 rue du Professeur Florence, 69003 Lyon, France. beby.francis@neuf.fr
authors.forename: Francis
authors.initials: F
authors.lastname: Beby
authors.forename: Claire
authors.initials: C
authors.lastname: Commeaux
authors.forename: Muriel
authors.initials: M
authors.lastname: Bozon
authors.forename: Philippe
authors.initials: P
authors.lastname: Denis
authors.forename: Patrick
authors.initials: P
authors.lastname: Edery
authors.forename: Laurette
authors.initials: L
authors.lastname: Morlé
mesh_terms: D002386:Cataract / Q000235:genetics*; D003103:Coloboma / Q000235:genetics*; D003459:Crystallins / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D006801:Humans; D007498:Iris / Q000002:abnormalities*; D008297:Male; D008850:Microphthalmos / Q000235:genetics*; D018895:Microsatellite Repeats; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype
chemical_list: C511246:CRYAA protein, human; D003459:Crystallins