title: Mutations in the PAX6 gene in patients with hereditary aniridia.
abstract: The 14 exons of the PAX6 gene have been analysed exon-by-exon using SSCP in 6 aniridia families. In each family band shifts were observed on the SSCP gels for only one exon and direct PCR-sequencing revealed mutations in each case. Two mutations involved C-->T transitions in CGAarg codons in exons 9 and 11. Another C-->T transition converted a CAG-glutamine to a TAG-stop in exon 7. Small insertions created frameshifts which produced downstream stop codons in another two patients and an A-->T mutation disrupted the splice donor site of exon 5 in the remaining family. Thus, complete inactivation of the PAX6 gene is predicted in all cases. Analysis of other affected members of the families showed that, in each case, all affected individuals carried the same family-specific mutation. One polymorphism was found in exon 7. This data strongly supports the candidature of PAX6 as the gene responsible for hereditary aniridia.
authors.affiliation: ICRF Oncology Group, Institute of Child Health, London, UK.
authors.forename: A
authors.initials: A
authors.lastname: Davis
authors.forename: J K
authors.initials: JK
authors.lastname: Cowell
mesh_terms: D000595:Amino Acid Sequence; D015783:Aniridia / Q000235:genetics*; D001120:Arginine; D001483:Base Sequence; D017931:DNA Primers; D004268:DNA-Binding Proteins / Q000235:genetics*; D005091:Exons; D005136:Eye Proteins; D005260:Female; D016368:Frameshift Mutation; D005973:Glutamine; D018398:Homeodomain Proteins; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012326:RNA Splicing; D012097:Repressor Proteins; D014157:Transcription Factors / Q000235:genetics*
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; D014157:Transcription Factors; D005973:Glutamine; D001120:Arginine