Benítez-Burraco Antonio, Kimura Ryo
Department of Spanish, Linguistics, and Theory of Literature (Linguistics), Faculty of Philology, University of Seville, Seville, Spain.
Department of Anatomy and Developmental Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Front Neurosci. 2019 Mar 26;13:258. doi: 10.3389/fnins.2019.00258. eCollection 2019.
Williams syndrome (WS) is a clinical condition, involving cognitive deficits and an uneven language profile, which has been the object of intense inquiry over the last decades. Although WS results from the hemideletion of around two dozen genes in chromosome 7, no gene has yet been probed to account for, or contribute significantly to, the language problems exhibited by the affected people. In this paper we have relied on gene expression profiles in the peripheral blood of WS patients obtained by microarray analysis and show that several robust candidates for language disorders and/or for language evolution in the species, all of them located outside the hemideleted region, are up- or downregulated in the blood of subjects with WS. Most of these genes play a role in the development and function of brain areas involved in language processing, which exhibit structural and functional anomalies in people with this condition. Overall, these genes emerge as robust candidates for language dysfunction in WS.
威廉姆斯综合征（WS）是一种临床病症，涉及认知缺陷和不均衡的语言特征，在过去几十年里一直是深入研究的对象。尽管WS是由7号染色体上约二十几个基因的半缺失引起的，但尚未有基因被探究以解释或显著促成受影响人群所表现出的语言问题。在本文中，我们依赖通过微阵列分析获得的WS患者外周血中的基因表达谱，并表明，几个在物种中作为语言障碍和/或语言进化的有力候选基因，它们全部位于半缺失区域之外，在WS患者的血液中上调或下调。这些基因中的大多数在参与语言处理的脑区的发育和功能中发挥作用，而在患有这种病症的人群中，这些脑区表现出结构和功能异常。总体而言，这些基因成为WS中语言功能障碍的有力候选基因。
