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首页> 外文期刊>Journal of genetics >Aniridia due to a novel microdeletion affecting PAX6 regulatory enhancers: case report and review of the literature
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Aniridia due to a novel microdeletion affecting PAX6 regulatory enhancers: case report and review of the literature

机译：由于新型微缺失影响PAX6调节增强剂而导致的无虹膜：病例报告和文献复习

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摘要

Aniridia is a rare congenital ocular malformation that follows an autosomal dominant mode of inheritance. Most patients carry pathogenic point mutations in the paired box 6 gene (PAX6), but some carry deletions involving the 11p13 region, encompassing partly or completely PAX6 or the region downstream. We identified a novel deletion,a??564 kb in size located about 46.5 kb downstream of PAX6 in a family with bilateral aniridia and foveal hypoplasia using array-CGH and multiplex ligation-dependent probe amplification. We also reviewall of the reported deletions downstream of PAX6 in patients with aniridia and/or other congenitalmalformations and define the overlapping region that leads to aniridia when deleted.
机译：无虹膜是一种罕见的先天性眼畸形，遵循常染色体显性遗传方式。大多数患者在配对框6基因（PAX6）中携带致病性点突变，但是有些患者携带涉及11p13区域的缺失，该区域涵盖部分或全部PAX6或下游区域。我们使用阵列-CGH和多重连接依赖性探针扩增技术鉴定了一个新的缺失，一个PAX6下游约46.5 kb的a 564 kb大小，位于双侧无虹膜和中央凹发育不全的家庭中。我们还审查了虹膜异位症和/或其他先天性畸形患者PAX6下游所有报道的缺失，并定义了缺失时导致虹膜异位的重叠区域。

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