包含远端1q区1q43-q44的拷贝数变异(CNVs)与神经损伤相关,大脑结构紊乱,智力残疾。这里,我们报告了一种极其罕见的,具有相邻重复的1q43-q44删除的从头病例,与严重癫痫发作有关,小头畸形,call体的发育不全,和pachygyria,有缺陷的神经元迁移障碍的结果。我们进行了文献调查,发现我们的患者仅是第二例此类1q43-q44CNV被描述的病例。我们的数据支持1q43-q44缺失与小头畸形之间的关联,以及1q43-q44重复和大头畸形之间的关联。我们将我们的发现与以前的研究报告的关键1q43-q44区域及其与癫痫发作相关的组成基因进行了比较和对比。小头畸形,和call体异常[Ballif等人。,2012;HumGenet131:145-156;Nagamani等人。,2012;欧洲JHumGenet20:176-179]。一起来看,我们的研究加强了1q43-q44CNVs与脑部疾病之间的关联.
Copy Number Variations (CNVs) comprising the distal 1q region 1q43-q44 are associated with neurological impairments, structural brain disorder, and intellectual disability. Here, we report an extremely rare, de novo
case of a 1q43-q44 deletion with an adjacent duplication, associated with severe seizures, microcephaly, agenesis of the corpus callosum, and pachygyria, a consequence of defective neuronal migration disorder. We conducted a literature survey to find that our patient is only the second
case of such a 1q43-q44 CNV ever to be described. Our data support an association between 1q43-q44 deletions and microcephaly, as well as an association between 1q43-q44 duplications and macrocephaly. We compare and contrast our findings with previous studies reporting on critical 1q43-q44 regions and their constituent genes associated with seizures, microcephaly, and corpus callosum abnormalities [Ballif et al., 2012; Hum Genet 131:145-156; Nagamani et al., 2012; Eur J Hum Genet 20:176-179]. Taken together, our study reinforces the association between 1q43-q44 CNVs and brain disorder.