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

被引：96
作者：
Davis, L. K. [1 ,4 ]
Meyer, K. J. [1 ,4 ]
Rudd, D. S. [1 ]
Librant, A. L. [1 ]
Epping, E. A. [1 ]
Sheffield, V. C. [2 ,3 ,4 ]
Wassink, T. H. [1 ,4 ]
机构：
[1] Univ Iowa, Carver Coll Med, Dept Psychiat, Iowa City, IA 52242 USA
[2] Univ Iowa, Carver Coll Med, Dept Pediat, Iowa City, IA USA
[3] Univ Iowa, Howard Hughes Med Inst, Iowa City, IA 52242 USA
[4] Univ Iowa, Interdisciplinary Program Genet, Iowa City, IA USA
来源：
HUMAN GENETICS | 2008年 / 123卷 / 04期
关键词：
D O I：
10.1007/s00439-008-0484-x
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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.
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收藏
页码：371 / 378
页数：8
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