Mutation screening of the HTR2B gene in patients with Tourette syndrome

Yi Guo, Xiong Deng, Joseph Jankovic, Linyan Su, Jie Zhang, Weidong Le, Hongbo Xu, Zuocheng Yang, Jinsong Tang, Shoujin Kuang, Hao Deng

Research output: Contribution to journalArticle

7 Scopus citations

Abstract

Tourette syndrome (TS), a neurological disorder with a reported prevalence frequency ranging from 0.7% to 4.2%, is manifested by motor and phonic tics and associated with a variety of behavioral abnormalities including impulsivity. Clinical, neuroimaging and other studies support dysfunction of the dopamine and 5-hydroxytryptamine neurotransmitter systems in TS. To determine whether TS is associated with mutation in the 5-hydroxytryptamine receptor 2B gene (HTR2B), which has been also implicated in impulsivity, we screened 132 Caucasian and 128 Chinese Han patients with TS. Two novel (c.188T>G, Met63Arg; c.1346G>A, Arg449Gln) and three known (rs61731726, Gly51Gln; rs200541113, Lys324Asn; rs61731723, Asn438Asn) nucleotide variants were found. Further analysis of sex, age, and ethnically matched normal controls (138 Caucasians and 248 Chinese Han individuals), as well as an affected family member, indicated that these variants may not be pathogenically relevant, suggesting that variants in the HTR2B gene may play little or no role in the development of TS.

Original languageEnglish (US)
JournalNeuroscience Letters
Volume526
Issue number2
DOIs
StatePublished - Sep 27 2012

Keywords

  • Mutation
  • Susceptibility
  • The HTR2B gene
  • Tourette syndrome
  • Variant

ASJC Scopus subject areas

  • Neuroscience(all)

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