Familial schizencephaly associated with EMX2 mutation
Familial schizencephaly associated with EMX2 mutation
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DOI：
10.1212/wnl.48.5.1403
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发表时间：
1997-05-01
期刊：
影响因子：
9.9
通讯作者：
Battaglia, G
中科院分区：
文献类型：
--
作者：
Granata, T;Farina, L;Battaglia, G
我们描述了两个兄弟，年龄分别为8岁和10岁，患有严重的双侧脑回畸形，携带相同的同源异型盒基因EMX2的点突变。两个孩子都有严重的神经功能缺损和智力迟钝，尽管他们在脑畸形的解剖程度和临床表现的严重程度上有所不同。目前的研究结果，以及与EMX2基因突变相关的中脑畸形病例报告，支持了这一假设，即至少在某些情况下，中脑畸形是由这种同源异型盒基因的有害突变决定的。不同的形态学和临床表现表明，除了EMX2突变外，其他因素也与脑畸形的严重程度和临床表现有关。
We describe two brothers aged 8 and 10 affected by severe bilateral schizencephaly, carrying an identical point mutation of the homeobox gene EMX2. Both children had severe neurologic deficits and mental retardation, although they differed in the anatomic extent of the brain malformation and in the severity of the clinical picture. The present findings, together with the reported cases of schizencephaly associated with EMX2 mutations, support the hypothesis that, at least in some cases, schizencephalies are determined by deleterious mutations of this homeobox gene. The different morphoclinical pictures suggest that, besides the EMX2 mutation, other factors are relevant in determining the severity of the brain malformation and clinical picture.