Pax6 3′ deletion results in aniridia, autism and mental retardation
Pax6 3′ deletion results in aniridia, autism and mental retardation
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DOI：
10.1007/s00439-008-0484-x
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发表时间：
2008-05-01
期刊：
影响因子：
5.3
通讯作者：
Wassink, T. H.
中科院分区：
文献类型：
--
作者：
Davis, L. K.;Meyer, K. J.;Wassink, T. H.
PAX 6基因是一种在发育早期表达的转录因子，主要在眼睛、大脑和肠道中表达。众所周知，PAX6的突变可能导致无虹膜、彼得异常和角膜炎。在这里，我们提出了一个无虹膜，自闭症和精神发育迟滞患者的突变分析。我们确定并表征了一个1.3 Mb的缺失，该缺失破坏了PAX6的转录活性，并删除了大脑中表达的其他基因。我们的研究结果为PAX6在与无虹膜相关的神经表型中的作用提供了持续的证据。
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.