FOXG1 is responsible for the congenital variant of Rett syndrome
FOXG1 is responsible for the congenital variant of Rett syndrome
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DOI：
10.1016/j.ajhg.2008.05.015
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发表时间：
2008-07-01
影响因子：
9.8
通讯作者：
Renieri, Alessandra
中科院分区：
文献类型：
--
作者：
Ariani, Francesca;Hayek, Giuseppe;Renieri, Alessandra
Rett综合征是一种严重的神经发育疾病，由编码甲基cpg结合蛋白MeCP2的x连锁基因突变引起。在这里，我们报道了两例Rett综合征先天性变异患者foxg1截断突变的鉴定。FOXG1编码一种对端脑早期发育至关重要的脑特异性转录抑制因子。分子分析表明，Foxg1在神经元发育过程中可能与MeCP2具有共同的分子机制，在出生后皮层和神经元亚核定位中表现出部分重叠的表达域。
Rett syndrome is a severe neurodevelopmental disease caused by mutations in the X-linked gene encoding for the methyl-CpG-binding protein MeCP2. Here, we report the identification of FOXG1-truncating mutations in two patients affected by the congenital variant of Rett syndrome. FOXG1 encodes a brain-specific transcriptional repressor that is essential for early development of the telencephalon. Molecular analysis revealed that Foxg1 might also share common molecular mechanisms with MeCP2 during neuronal development, exhibiting partially overlapping expression domain in postnatal cortex and neuronal subnuclear localization.