Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, UCL Institute of Child Health, University College London, 30 Guilford Street, London, UK.
Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):115-24. doi: 10.1016/j.beem.2010.06.008.
Septo-optic dysplasia (SOD) is a highly heterogeneous condition comprising variable phenotypes including midline and forebrain abnormalities, optic nerve and pituitary hypoplasia. Most instances of SOD are sporadic and several aetiologies including drug and alcohol abuse have been suggested to account for the pathogenesis of the condition. However, a number of familial cases have been described with an increasing number of mutations in developmental transcription factors including HESX1, SOX2, SOX3 and OTX2 being implicated in its aetiology. These factors are essential for normal forebrain/pituitary development, and disruptions to these genes could account for the features observed in SOD and other midline disorders. The variable phenotypes observed within the condition are most likely due to the varying contributions of genetic and environmental factors. This review will discuss the current knowledge about SOD. Further study of these and other novel factors may shed light on the complex aetiology of this condition.
视-隔发育不良（SOD）是一种高度异质性疾病，包括各种表型，包括中线和前脑异常、视神经和垂体发育不良。大多数 SOD 是散发性的，有几种病因学，包括药物和酒精滥用，被认为是该疾病发病机制的原因。然而，已经描述了许多家族性病例，并发现了越来越多的发育转录因子（包括 HESX1、SOX2、SOX3 和 OTX2）的突变与 SOD 及其发病机制有关。这些因素对于正常的前脑/垂体发育是必不可少的，这些基因的破坏可能解释了 SOD 和其他中线疾病中观察到的特征。该疾病中观察到的可变表型很可能是由于遗传和环境因素的不同贡献。本文将讨论 SOD 的现有知识。对这些和其他新因素的进一步研究可能会揭示该疾病复杂的病因学。
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