Human Genetic Disorders of Axon Guidance
Human Genetic Disorders of Axon Guidance
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DOI：
10.1101/cshperspect.a001784
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发表时间：
2010-03-01
影响因子：
7.2
通讯作者：
Engle, Elizabeth C.
中科院分区：
文献类型：
--
作者：
Engle, Elizabeth C.
本文回顾了人类轴突连接异常的症状和体征，并总结了由轴突引导缺陷导致的或被认为是由轴突引导缺陷导致的主要人类遗传疾病。这些包括胼胝体发育不全、L1综合征、Joubert综合征及相关疾病、水平凝视性麻痹伴进行性脊柱侧凸、Kallmann综合征、白化病、先天性1型眼外肌纤维化、Duane回缩综合征和脑桥被盖发育不良。在这些疾病中发生突变的基因可以编码轴突生长锥配体和受体、下游信号分子、轴突运输马达，以及目前尚未在轴突引导中发挥作用的蛋白质。神经影像学和遗传技术的进步有可能迅速扩展这一领域，轴突引导障碍将很快被认为是人类神经发育障碍的一个新的重要类别。
This article reviews symptoms and signs of aberrant axon connectivity in humans, and summarizes major human genetic disorders that result, or have been proposed to result, from defective axon guidance. These include corpus callosum agenesis, L1 syndrome, Joubert syndrome and related disorders, horizontal gaze palsy with progressive scoliosis, Kallmann syndrome, albinism, congenital fibrosis of the extraocular muscles type 1, Duane retraction syndrome, and pontine tegmental cap dysplasia. Genes mutated in these disorders can encode axon growth cone ligands and receptors, downstream signaling molecules, and axon transport motors, as well as proteins without currently recognized roles in axon guidance. Advances in neuroimaging and genetic techniques have the potential to rapidly expand this field, and it is feasible that axon guidance disorders will soon be recognized as a new and significant category of human neurodevelopmental disorders.