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Mutation screening of the HDC gene in Chinese Han patients with Tourette syndrome

Authors

  • Jing Lei,

    1. Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha, China
    2. Department of Neurology, the Third Xiangya Hospital, Central South University, Changsha, China
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  • Xiong Deng,

    1. Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha, China
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  • Jie Zhang,

    1. Department of Neurology, Hunan Children's Hospital, Changsha, China
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  • Linyan Su,

    1. Dapartment of Psychiatry, the Second Xiangya Hospital, Central South University, Changsha, China
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  • Hongbo Xu,

    1. Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha, China
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  • Hui Liang,

    1. Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha, China
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  • Xian Huang,

    1. Department of Neurology, the Third Xiangya Hospital, Central South University, Changsha, China
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  • Zhi Song,

    1. Department of Neurology, the Third Xiangya Hospital, Central South University, Changsha, China
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  • Hao Deng

    Corresponding author
    1. Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha, China
    2. Department of Neurology, the Third Xiangya Hospital, Central South University, Changsha, China
    • The Third Xiangya Hospital, Central South University 138 Tongzipo Road, Changsha, Hunan 410013, China.
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    • Professor of Center for Experimental Medicine, Professor of Neurology, and Vice Director of Center for Experimental Medicine.


  • Jing Lei and Xiong Deng contributed equally to this work.

  • How to Cite this Article: Lei J, Deng X, Zhang J, Su L, Xu H, Liang H, Huang X, Song Z, Deng H. 2012. Mutation screening of the HDC gene in Chinese Han patients with Tourette syndrome. Am J Med Genet Part B 159B:72–76.

Abstract

Tourette Syndrome (TS) is a complex neuropsychiatric disorder characterized by vocal and motor tics. While environmental causes have been proposed to play a role, genetic factors are believed to be the main determinants of the disorder and its clinical manifestations. Recently, a heterozygous W317X mutation in the histidine decarboxylase gene (HDC) was reported to be responsible for TS in a two-generation pedigree. To investigate whether the HDC gene play a role in TS in Chinese Han population, we performed genetic analysis of the coding region of the HDC gene in 100 Chinese Han patients with TS. Three variants were found including a C > T transition (IVS1 + 52C > T), a novel C > A transition (c.426C > A) in exon 4, and a novel G > A transition (c.1743G > A) in exon 12, both predicted with no amino acid change. Extended analysis was conducted in a total of 120 TS patients and 240 sex, age, and ethnicity matched healthy controls. No significant differences in genotypic and allele distribution between patients and controls for these three variants (P = 0.274, P = 1.000 and P = 0.632 for genotypic distribution, respectively; P = 0.143, P = 1.000 and P = 0.582 for allele distribution, respectively) were observed, suggesting variants in the HDC gene may play little or no role in TS susceptibility in Chinese Han population. © 2011 Wiley Periodicals, Inc.

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