Westphal Dominik S, Andres Stephanie, Makowski Christine, Meitinger Thomas, Hoefele Julia
Institute of Human Genetics, Technical University of Munich, Munich, Germany.
Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
Front Genet. 2018 Mar 26;9:99. doi: 10.3389/fgene.2018.00099. eCollection 2018.
Microdeletions in the chromosomal region 2q34 and its neighboring regions lead to a phenotypic spectrum including autism, intellectual disability, and epilepsy. Up to now, only few affected patients have been reported. Therefore, the genetic pathogenesis is not completely understood. One of the most discussed candidate genes in this context is , a gene responsible for microtubule polymerization and neurite outgrowth. We present a 4.5-year-old male patient with epilepsy, mild developmental delay, and behavioral abnormalities. SNP-Array analysis was performed to search for pathogenic copy number variations. SNP-Array analysis revealed a 1.5 Mb microdeletion on the long arm of chromosome 2 (2q34). The identified microdeletion included the candidate genes , and most importantly . The reported microdeletion identified in this patient is the smallest one described in the literature so far spanning next to and . In this context is the most important candidate gene concerning neuronal development and its function should be further examined.
染色体区域2q34及其邻近区域的微缺失会导致一系列表型，包括自闭症、智力残疾和癫痫。到目前为止，仅有少数受影响的患者被报道。因此，其遗传发病机制尚未完全明确。在此背景下，最常被讨论的候选基因之一是 ，一个负责微管聚合和神经突生长的基因。我们报告了一名4.5岁男性患者，患有癫痫、轻度发育迟缓及行为异常。进行了单核苷酸多态性阵列（SNP-Array）分析以寻找致病性拷贝数变异。SNP-Array分析显示2号染色体长臂（2q34）存在一个1.5 Mb的微缺失。所鉴定的微缺失包含候选基因 ，最重要的是 。该患者中报道的微缺失是迄今为止文献中描述的最小的微缺失，紧邻 和 跨越 。在此背景下， 是与神经元发育相关的最重要候选基因，其功能应进一步研究。
