Examination of the SLITRK1 gene in Caucasian patients with Tourette syndrome -: Clinical commentary

被引:51
作者
Deng, H. [1 ]
Le, W. D. [1 ]
Xie, W. J. [1 ]
Jankovic, J. [1 ]
机构
[1] Baylor Coll Med, Dept Neurol, Parkinsons Dis Ctr & Movement Disorders Clin, Houston, TX 77030 USA
来源
ACTA NEUROLOGICA SCANDINAVICA | 2006年 / 114卷 / 06期
关键词
the Slit and Trk-like 1 gene (SLITRK1); Tourette syndrome; mutation; heterogeneity; diagnostic utility;
D O I
10.1111/j.1600-0404.2006.00706.x
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Objective - To determine whether variants in the Slit and Trk-like 1 gene (SLITRK1) are present in American Caucasian population of patients with Tourette syndrome (TS). Methods - We sequenced the 3'-untranslated region for var321 and the whole coding region in the SLITRK1 gene in 82 Caucasian patients with TS from North America. Results - None of the 82 samples from patients with TS showed the non-coding sequence variant (var321). Only one patient with familial TS was heterozygous for a novel 708C > T (Ile236Ile) nucleotide variant. Conclusions - The var321 and mutation(s) in the coding region of the SLITRK1 gene probably are a rare cause of TS in a Caucasian population; therefore, genetic heterogeneity of TS should be considered. Tests designed to detect variant(s) in the SLITRK1 gene probably will not have a diagnostic utility in clinical practice.
引用
收藏
页码:400 / 402
页数:3
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