Pax6基因3'端缺失会导致无虹膜、自闭症和智力迟钝。
Pax6 3' deletion results in aniridia, autism and mental retardation.
作者信息
Davis L K, Meyer K J, Rudd D S, Librant A L, Epping E A, Sheffield V C, Wassink T H
机构信息
Department of Psychiatry, University of Iowa Carver College of Medicine, Iowa City, IA, USA.
出版信息
Hum Genet. 2008 May;123(4):371-8. doi: 10.1007/s00439-008-0484-x. Epub 2008 Mar 6.
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.
摘要
PAX6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基因的突变可能导致无虹膜、彼得异常和角化病。在此，我们展示了一名患有无虹膜、自闭症和智力迟钝患者的突变分析。我们鉴定并表征了一个1.3 Mb的缺失，该缺失破坏了PAX6的转录活性，并删除了在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。
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本文引用的文献
1
Genetic mechanisms underlying abnormal neuronal migration in classical lissencephaly.经典型无脑回畸形中神经元迁移异常的遗传机制。
Trends Genet. 2007 Dec;23(12):623-30. doi: 10.1016/j.tig.2007.09.003. Epub 2007 Nov 8.
2
Raised risk of Wilms tumour in patients with aniridia and submicroscopic WT1 deletion.患有无虹膜和亚显微WT1基因缺失的患者患肾母细胞瘤的风险增加。
J Med Genet. 2007 Dec;44(12):787-90. doi: 10.1136/jmg.2007.051318. Epub 2007 Jul 14.
3
A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation.一名患有无虹膜、共济失调和智力障碍患者的PAX6基因新发无义突变。
Am J Med Genet A. 2007 Aug 1;143A(15):1802-5. doi: 10.1002/ajmg.a.31808.
4
Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis.中心体-纤毛基因CEP290/NPHP6突变导致失明，但光感受器和视脑意外幸免：对莱伯先天性黑蒙症治疗的启示
Hum Mutat. 2007 Nov;28(11):1074-83. doi: 10.1002/humu.20565.
5
Auditory interhemispheric transfer deficits, hearing difficulties, and brain magnetic resonance imaging abnormalities in children with congenital aniridia due to PAX6 mutations.PAX6基因突变所致先天性无虹膜患儿的听觉半球间传递缺陷、听力障碍及脑磁共振成像异常
Arch Pediatr Adolesc Med. 2007 May;161(5):463-9. doi: 10.1001/archpedi.161.5.463.
6
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Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation.类吉莱斯皮综合征的眼部表现：与一种新的PAX6突变相关
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Childhood autism and associated comorbidities.儿童自闭症及相关共病
Brain Dev. 2007 Jun;29(5):257-72. doi: 10.1016/j.braindev.2006.09.003. Epub 2006 Nov 7.
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