Analysis of the MRPL3, DNAJC13 and OFCC1 variants in Chinese Han patients with TS-CTD

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• 作者：Yi Guo^a ; ^b ; ¹ ; Xiong Deng^a ; ¹ ; Jie Zhang^c ; Linyan Su^d ; Hongbo Xu^a ; Ziqiang Luo^b ; Hao Deng^a ; ^{hdeng008@yahoo.com}
• 关键词：MRPL3 ; DNAJC13 ; OFCC1 ; Diagnostic utility
• 刊名：Neuroscience Letters
• 出版年：2012
• 期刊代码：52_03043940
• 类别：neu
• 出版时间：23 May, 2012
• 卷：517
• 期：1
• 页码：18-20
• 文件大小：158 K

摘要

Tourette syndrome/chronic tic phenotype (TS-CTD) is a neurological disorder manifested particularly by motor and vocal tics and associated with a variety of behavioral abnormalities. Recently, the mitochondrial ribosomal protein L3 gene (MRPL3) S75N, the DnaJ (Hsp40) homolog subfamily C member 13 gene (DNAJC13) A2057S, the orofacial cleft 1 candidate 1 gene (OFCC1) R129G and c.-5A>G variants are reported to be associated with Tourette syndrome/chronic tic phenotype (TS-CTD) in patients of European ancestry. To evaluate whether these variants are associated with TS-CTD in Chinese Han patients, we screened 132 Chinese Han patients from Mainland China. None of the 132 samples from patients with TS-CTD showed the MRPL3 S75N, DNAJC13 A2057S, OFCC1 R129G and c.-5A>G variants, and these variants probably are a rare cause of TS-CTD in a Chinese Han ethnic group. Genetic heterogeneity of TS should be considered and tests designed to detect these variants in Chinese Han ethnic group probably will not have a diagnostic utility in clinical practice.