功能丧失性CNKSR2突变可能是非综合征性X连锁智力障碍的病因。
Loss-of-Function CNKSR2 Mutation Is a Likely Cause of Non-Syndromic X-Linked Intellectual Disability.
作者信息
Houge G, Rasmussen I H, Hovland R
机构信息
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.
出版信息
Mol Syndromol. 2012 Jan;2(2):60-63. doi: 10.1159/000335159. Epub 2011 Dec 20.
Abstract
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.
摘要
在一名发育迟缓、癫痫得到良好控制且患有小头畸形的5岁非畸形男孩中，通过拷贝数分析检测到Xp22.12存在234 kb的缺失。母系遗传的缺失删除了KSR-2基因的衔接子增强子（称为CNKSR2或CNK2）21个外显子中的前15个。我们的发现表明，CNKSR2的缺失是非综合征性X连锁智力障碍的一个新病因，这一假设得到了该基因在大脑中的高表达、定位于突触后致密区以及在RAS/MAPK依赖性信号转导中发挥作用的支持。
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