Department of Psychiatry, University of Illinois, Chicago, Illinois 60637, USA.
Am J Med Genet A. 2012 Jul;158A(7):1654-61. doi: 10.1002/ajmg.a.35396. Epub 2012 Jun 7.
Ataxin 2 binding protein 1 (A2BP1 aka FOX1, RBFOX1) is an RNA binding protein responsible for regulation of pre-mRNA splicing events in a number of critical developmental genes expressed in muscle, heart and neuronal cells [Shibata et al. (2000); Mamm Genome 12:595-601; Jin et al. (2003); EMBO J 22:905-912; Underwood et al. (2005); Mol Cell Biol 25:10005-10016]. Rare copy number abnormalities of A2BP1 have been previously associated with cognitive impairment, attention deficit disorder and autism [Martin et al. (2007); Am J Med Gen Part B 144B:869-876; Elia et al. (2010); Mol Psychiatry 15:637-646.]. Using a 1M Illumina SNP microarray, we identified a 1.3 kb deletion in A2BP1, which was subsequently validated by quantitative PCR. Here we present an in depth case study of an individual with autism and mild developmental hemiparesis in whom the deletion was detected. This study provides further support for the possible role of rare copy number variants in A2BP1 in the development of autism and associated motor asymmetries.
Ataxin 2 结合蛋白 1（A2BP1，又名 FOX1，RBFOX1）是一种 RNA 结合蛋白，负责调节肌肉、心脏和神经元细胞中表达的许多关键发育基因的前体 mRNA 剪接事件[Shibata 等人（2000）；哺乳动物基因组 12:595-601；Jin 等人（2003）；欧洲分子生物学组织杂志 22:905-912；Underwood 等人（2005）；分子细胞生物学 25:10005-10016]。A2BP1 的罕见拷贝数异常先前与认知障碍、注意力缺陷障碍和自闭症有关[Martin 等人（2007）；美国医学遗传学杂志第 144B 卷：869-876；Elia 等人（2010）；分子精神病学 15:637-646]。我们使用 1M Illumina SNP 微阵列鉴定了 A2BP1 中的 1.3 kb 缺失，随后通过定量 PCR 进行了验证。在这里，我们对一名患有自闭症和轻度发育性偏瘫的个体进行了深入的案例研究，在该个体中检测到了缺失。这项研究为 A2BP1 中罕见拷贝数变异在自闭症和相关运动不对称性发展中的可能作用提供了进一步的支持。
