Yuan Lamei, Zheng Wen, Yang Zuocheng, Deng Xiong, Song Zhi, Deng Hao
Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
Neurosci Lett. 2018 Feb 14;666:24-27. doi: 10.1016/j.neulet.2017.12.034. Epub 2017 Dec 16.
Tourette syndrome (TS) is a complex neuropsychiatric disorder with chronic motor and vocal tics. Though the etiology is elusive, strong evidence for a genetic contribution to TS has been established. To date, various chromosomal or genetic alterations have been implicated in its pathogenesis. Recently, the deletion in the arylacetamide deacetylase gene (AADAC) was reported to be associated with TS. To investigate the association between the AADAC gene variants and TS, we conducted genetic analysis of the AADAC gene in 200 Han Chinese patients and 300 ethnicity-matched normal controls. Two variants, including a heterozygous splice-site variant, c.361 + 1G > A (rs762169706), and a missense variant, c.744A > T (p.R248S, rs186388618), were identified in two unrelated patients. The c.361 + 1G > A variant, absent in 300 ethnicity-matched controls, led to the deletion of exon 2 in AADAC mRNA, probably associated with development of TS. The c.744A > T variant, predicted to be damaging, was identified in two normal controls. The findings indicate that the AADAC gene c.361 + 1G > A variant may be a potential candidate factor for TS development, though further investigations are warranted.
图雷特综合征（TS）是一种伴有慢性运动性和发声性抽动的复杂神经精神障碍。尽管其病因尚不明确，但已有确凿证据表明基因在TS发病中起作用。迄今为止，各种染色体或基因改变均与其发病机制有关。最近，有报道称芳基乙酰胺脱乙酰酶基因（AADAC）的缺失与TS有关。为了研究AADAC基因变异与TS之间的关联，我们对200例汉族患者和300例种族匹配的正常对照进行了AADAC基因的遗传分析。在两名无亲缘关系的患者中鉴定出两个变异，包括一个杂合剪接位点变异c.361+1G>A（rs762169706）和一个错义变异c.744A>T（p.R248S，rs186388618）。在300例种族匹配的对照中未发现的c.361+1G>A变异导致AADAC mRNA中外显子2的缺失，可能与TS的发生有关。在两名正常对照中鉴定出预测具有损害性的c.744A>T变异。这些发现表明，AADAC基因c.361+1G>A变异可能是TS发生的一个潜在候选因素，不过仍需进一步研究。
