Get 20M+ Full-Text Papers For Less Than $1.50/day. Start a 14-Day Trial for You or Your Team.

Learn More →

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

Pax6 3′ deletion results in aniridia, autism and mental retardation 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. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Human Genetics Springer Journals

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

Loading next page...
 
/lp/springer-journal/pax6-3-deletion-results-in-aniridia-autism-and-mental-retardation-2P7PHTvRV6

References (45)

Publisher
Springer Journals
Copyright
Copyright © 2008 by Springer-Verlag
Subject
Biomedicine; Metabolic Diseases ; Internal Medicine ; Molecular Medicine ; Human Genetics
ISSN
0340-6717
eISSN
1432-1203
DOI
10.1007/s00439-008-0484-x
pmid
18322702
Publisher site
See Article on Publisher Site

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.

Journal

Human GeneticsSpringer Journals

Published: May 1, 2008

There are no references for this article.