Uyanik G, Aigner L, Martin P, Gross C, Neumann D, Marschner-Schäfer H, Hehr U, Winkler J
Department of Neurology, University of Regensburg, Germany.
Neurology. 2003 Jul 22;61(2):232-5. doi: 10.1212/01.wnl.0000079371.19562.ba.
X-linked lissencephaly with abnormal genitalia (XLAG) is a distinct form of lissencephaly associated with absent corpus callosum. Recently, forms of syndromic and nonspecific X-linked mental retardation have been found to be associated with mutations in the Aristaless-related homeobox gene ARX. The authors assessed ARX as a candidate gene for XLAG in a genetic analysis of neuronal migration disorders and found two different point mutations in two XLAG pedigrees affecting the homeodomain of the protein, confirming that ARX is a causative gene for XLAG.
伴有生殖器异常的X连锁无脑回畸形（XLAG）是一种与胼胝体缺失相关的独特无脑回畸形形式。最近，已发现综合征性和非特异性X连锁智力迟钝形式与无尾相关同源框基因ARX的突变有关。作者在对神经元迁移障碍的遗传分析中评估了ARX作为XLAG的候选基因，并在两个XLAG家系中发现了两个不同的点突变，影响该蛋白的同源结构域，证实ARX是XLAG的致病基因。
