【摘要】 目的 :研究PAX6基因突变与脑结构异常的关系。方法 :应用核磁共振成像技术 ,对一个由PAX6c10 80C→T突变引起无虹膜的家系中 18名患者和 6名正常人进行脑结构扫描。结果 :该家系大部分PAX6基因突变患者表现出不同程度的脑质退化变性、胼胝体变薄萎缩和嗅球萎缩等脑结构的异常 ,其中有一例病人还表现出Chiari畸形的影像学特征。结论 :进一步证实了PAX6基因突变能够引起人脑结构异常。更多还原

【Abstract】 Objective: To investigate the association between PAX6 mutation and brain abnormalities.Methods: The brain structures of 18 affected patients and 6 normal controls in a large pedigree with a PAX6 mutation (c1080C→T)were scanned with MRI assessing. Results: Most of the affected patients showed brain abnormalities such as corpus callosum degeneration, broad cerebral ventricle grooves and broad olfactory grooves.Conclusion: Genetic defect of PAX6 gene may result in brain abnormalities.更多还原