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	A Martha, R E Ferrell, H Mintz-Hittner, L A Lyons, G F Saunders
Journal	American journal of human genetics (Am J Hum Genet) Vol. 54 Issue 5 Pg. 801-11 (May 1994) ISSN: 0002-9297 [Print] United States
PMID	7909985 (Publication Type: Case Reports, Journal Article, Research Support, U.S. Gov't, P.H.S.)
Chemical References	Codon DNA Primers DNA Transposable Elements DNA-Binding Proteins Eye Proteins Homeodomain Proteins PAX6 Transcription Factor PAX6 protein, human Paired Box Transcription Factors Repressor Proteins Transcription Factors
Topics	Amino Acid Sequence Aniridia (genetics) Base Sequence Codon DNA Primers DNA Transposable Elements DNA-Binding Proteins (genetics) Exons Eye Proteins Family Female Genes, Homeobox Homeodomain Proteins Humans Introns Male Molecular Sequence Data Multigene Family PAX6 Transcription Factor Paired Box Transcription Factors Pedigree Point Mutation Repressor Proteins Transcription Factors (genetics)

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