Loss-of-Function CNKSR2 Mutation Is a Likely Cause of Non-Syndromic X-Linked Intellectual Disability
Loss-of-Function CNKSR2 Mutation Is a Likely Cause of Non-Syndromic X-Linked Intellectual Disability
复制标题
DOI：
10.1159/000335159
复制
发表时间：
2011-01-01
影响因子：
1.1
通讯作者：
Hovland, R.
中科院分区：
文献类型：
--
作者：
Houge, G.;Rasmussen, I. H.;Hovland, R.
在一个非畸形的5岁男孩与发育迟缓，控制良好的癫痫和小头畸形，一个234 kb的Xp22.12缺失检测拷贝数分析。母系遗传的缺失删除了KSR-2基因连接增强子（称为CNKSR 2或CNK 2）的21个外显子中的前15个。我们的研究结果表明，CNKSR 2的损失是一个新的原因，非综合征性X连锁精神发育迟滞，一个假设支持的高基因表达在大脑中，定位到突触后密度，并在RAS/MAPK依赖性信号转导的作用。版权所有（C）2011 S. Karger AG，巴塞尔
In a non-dysmorphic 5-year-old boy with developmental delay, well-controlled epilepsy, and microcephaly, a 234-kb deletion of Xp22.12 was detected by copy number analysis. The maternally inherited deletion removed the initial 15 of the 21 exons of the connector enhancer of KSR-2 gene called CNKSR2 or CNK2. Our finding suggests that loss of CNKSR2 is a novel cause of non-syndromic X-linked mental retardation, an assumption supported by high gene expression in the brain, localization to the post-synaptic density, and a role in RAS/MAPK-dependent signal transduction. Copyright (C) 2011 S. Karger AG, Basel