title: Mutation screening of the HDC gene in Chinese Han patients with Tourette syndrome.
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.
authors.affiliation: Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Lei
authors.forename: Xiong
authors.initials: X
authors.lastname: Deng
authors.forename: Jie
authors.initials: J
authors.lastname: Zhang
authors.forename: Linyan
authors.initials: L
authors.lastname: Su
authors.forename: Hongbo
authors.initials: H
authors.lastname: Xu
authors.forename: Hui
authors.initials: H
authors.lastname: Liang
authors.forename: Xian
authors.initials: X
authors.lastname: Huang
authors.forename: Zhi
authors.initials: Z
authors.lastname: Song
authors.forename: Hao
authors.initials: H
authors.lastname: Deng
mesh_terms: D044466:Asian People / Q000235:genetics*; D002648:Child; D002681:China; D004252:DNA Mutational Analysis; D005006:Ethnicity / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006640:Histidine Decarboxylase / Q000235:genetics*; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D016366:Open Reading Frames / Q000235:genetics; D005879:Tourette Syndrome / Q000201:enzymology* / Q000235:genetics*
chemical_list: D006640:Histidine Decarboxylase