Original Investigation

Human Genetics

, Volume 123, Issue 4, pp 371-378

Pax6 3′ deletion results in aniridia, autism and mental retardation

  • L. K. DavisAffiliated withDepartment of Psychiatry, University of Iowa Carver College of MedicineInterdisciplinary Program In Genetics, University of Iowa Email author 
  • , K. J. MeyerAffiliated withDepartment of Psychiatry, University of Iowa Carver College of MedicineInterdisciplinary Program In Genetics, University of Iowa
  • , D. S. RuddAffiliated withDepartment of Psychiatry, University of Iowa Carver College of Medicine
  • , A. L. LibrantAffiliated withDepartment of Psychiatry, University of Iowa Carver College of Medicine
  • , E. A. EppingAffiliated withDepartment of Psychiatry, University of Iowa Carver College of Medicine
  • , V. C. SheffieldAffiliated withDepartment of Pediatrics, University of Iowa Carver College of MedicineHoward Hughes Medical Institute, University of IowaInterdisciplinary Program In Genetics, University of Iowa
  • , T. H. WassinkAffiliated withDepartment of Psychiatry, University of Iowa Carver College of MedicineInterdisciplinary Program In Genetics, University of Iowa

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Abstract

The 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.