title: A novel PAX6 frameshift mutation in a kindred from Atlantic Canada with familial aniridia.
abstract: BACKGROUND
  Many mutations in PAX6, a member of a family of genes essential for normal development, have been described. We carried out a study to identify the mutation in PAX6 responsible for aniridia, an autosomal dominant disorder, in a kindred from Atlantic Canada.
  
  
  METHODS
  Polymerase chain reaction amplification of coding exons, single-strand conformation polymorphism analysis and DNA sequencing.
  
  
  RESULTS
  A novel deletion of an adenosine residue at position 1030 (1030delA) was detected.
  
  
  CONCLUSIONS
  The mutation responsible for aniridia in this kindred is expected to cause a frameshift in the PAX6 coding sequence and truncation of the homeodomain, which is essential for the function of the pax6 protein.
authors.affiliation: Department of Pathology, Dalhousie University, Halifax, NS. sgupta@ogh.on.ca
authors.forename: S K
authors.initials: SK
authors.lastname: Gupta
authors.forename: A
authors.initials: A
authors.lastname: Orr
authors.forename: D
authors.initials: D
authors.lastname: Bulman
authors.forename: I
authors.initials: I
authors.lastname: De Becker
authors.forename: D L
authors.initials: DL
authors.lastname: Guernsey
authors.forename: P E
authors.initials: PE
authors.lastname: Neumann
mesh_terms: D000328:Adult; D015783:Aniridia / Q000235:genetics*; D002170:Canada; D002648:Child; D004247:DNA / Q000032:analysis; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000737:chemistry; D004268:DNA-Binding Proteins / Q000235:genetics*; D005091:Exons; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D008297:Male; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D012097:Repressor Proteins
chemical_list: D017931:DNA Primers; D004268:DNA-Binding Proteins; D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins; D004247:DNA