Professor of Center for Experimental Medicine, Professor of Neurology, and Vice Director of Center for Experimental Medicine.
Article first published online: 16 NOV 2011
Copyright © 2011 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Volume 159B, Issue 1, pages 72–76, January 2012
How to Cite
Lei, J., Deng, X., Zhang, J., Su, L., Xu, H., Liang, H., Huang, X., Song, Z. and Deng, H. (2012), Mutation screening of the HDC gene in Chinese Han patients with Tourette syndrome. Am. J. Med. Genet., 159B: 72–76. doi: 10.1002/ajmg.b.32003
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.
- Issue published online: 16 DEC 2011
- Article first published online: 16 NOV 2011
- Manuscript Accepted: 21 OCT 2011
- Manuscript Received: 1 AUG 2011
- Tourette syndrome;
- the HDC gene;
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.