2q21.1 copy number variation syndrome

The 2q21.1 copy number variation syndrome can result in the loss of up to 9 protein-coding genes. Deletions and duplications in 2q21.1 were reported to be connected to intellectual disability, hyperactivity, and aggressive behavior (DOI: 10.1002/mgg3.1135,DOI: 10.1002/ajmg.a.36357). The clinical picture was explained by alterations in five genes important for neurological development, namely GPR148, FAM123C, ARHGEF4, FAM168B and PLEKHB2 (DOI: 10.1002/ajmg.a.36357,DOI: 10.1093/hmg/dds166). Analogically, changes in tubulin genes in 2q21.1 were linked to Motor Timing in ADHD (DOI: 10.1016/j.ajhg.2008.06.006). For this rare disorder, two different genomic locations are known according to Kirov et al. 2014 and literature cited there and Gimelli et al. 2014 with a larger deletion.

2q21.1拷贝数变异综合征可能导致多达9个蛋白编码基因的丢失。据报告，2q21.1区域内的缺失和重复与智力障碍、多动症以及攻击性行为相关（参考文献：DOI: 10.1002/mgg3.1135，DOI: 10.1002/ajmg.a.36357）。临床症状可通过影响神经系统发育的五个基因的变化来解释，这五个基因分别是GPR148、FAM123C、ARHGEF4、FAM168B和PLEKHB2（参考文献：DOI: 10.1002/ajmg.a.36357，DOI: 10.1093/hmg/dds166）。类似地，2q21.1区域中微管基因的变化与注意缺陷多动障碍（ADHD）的动时同步相关（参考文献：DOI: 10.1016/j.ajhg.2008.06.006）。根据Kirov等人在2014年的研究及其中引用的文献，以及Gimelli等人在2014年的研究，已知该罕见疾病的两种不同的基因组位置。