title: Paired box mutations in familial and sporadic aniridia predicts truncated aniridia proteins.
abstract: Aniridia, an autosomal dominant ocular disorder characterized by iris hypoplasia, results from mutations in the PAX6 gene, which encodes paired box and homeobox motifs. In this report we describe five new mutations in the paired box region of the human PAX6 gene that are associated with aniridia. The paired box mutations that we detected were in both familial (three) and sporadic (two) cases. All five mutations predict truncated PAX6 proteins. Our study indicates that early premature translational termination mutations in the PAX6 gene result in haploinsufficiency and generate the aniridia phenotype.
authors.affiliation: Department of Biochemistry and Molecular Biology, University of Texas M. D. Anderson Cancer Center, Houston 77030.
authors.forename: A
authors.initials: A
authors.lastname: Martha
authors.forename: R E
authors.initials: RE
authors.lastname: Ferrell
authors.forename: H
authors.initials: H
authors.lastname: Mintz-Hittner
authors.forename: L A
authors.initials: LA
authors.lastname: Lyons
authors.forename: G F
authors.initials: GF
authors.lastname: Saunders
mesh_terms: D000595:Amino Acid Sequence; D015783:Aniridia / Q000235:genetics*; D001483:Base Sequence; D003062:Codon; D017931:DNA Primers; D004251:DNA Transposable Elements; D004268:DNA-Binding Proteins / Q000235:genetics*; D005091:Exons; D005136:Eye Proteins; D005190:Family; D005260:Female; D005801:Genes, Homeobox; D018398:Homeodomain Proteins; D006801:Humans; D007438:Introns; D008297:Male; D008969:Molecular Sequence Data; D005810:Multigene Family; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors; D010375:Pedigree; D017354:Point Mutation; D012097:Repressor Proteins; D014157:Transcription Factors / Q000235:genetics
chemical_list: D003062:Codon; D017931:DNA Primers; D004251:DNA Transposable Elements; 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