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Pax6 3 deletion results in aniridia, autism and mental retardation Davis LK; Meyer KJ; Rudd DS; Librant AL; Epping EA; Sheffield VC; Wassink THHum Genet 2008[May]; 123 (4): 371-8The PAX6 gene is a transcription factor expressed early in development, predominantly in the eye, brain and gut. It is well known that mutations in PAX6 may result in aniridia, Peter's anomaly and kertatisis. Here, we present mutation analysis of a patient with aniridia, autism and mental retardation. We identified and characterized a 1.3 Mb deletion that disrupts PAX6 transcriptional activity and deletes additional genes expressed in the brain. Our findings provide continued evidence for the role of PAX6 in neural phenotypes associated with aniridia.|*Sequence Deletion[MESH]|Adolescent[MESH]|Adult[MESH]|Aniridia/complications/*genetics[MESH]|Autistic Disorder/complications/*genetics[MESH]|Chromosomes, Human, Pair 11/genetics[MESH]|Eye Proteins/chemistry/*genetics[MESH]|Female[MESH]|Gene Dosage[MESH]|Homeodomain Proteins/chemistry/*genetics[MESH]|Humans[MESH]|In Situ Hybridization, Fluorescence[MESH]|Intellectual Disability/complications/*genetics[MESH]|Male[MESH]|Oligonucleotide Array Sequence Analysis[MESH]|PAX6 Transcription Factor[MESH]|Paired Box Transcription Factors/chemistry/*genetics[MESH]|Pedigree[MESH]|Phenotype[MESH]|Repressor Proteins/chemistry/*genetics[MESH] |
