Document Detail

Mutation screening of the HTR2B gene in patients with Tourette syndrome.
MedLine Citation:
PMID:  22917605     Owner:  NLM     Status:  Publisher    
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.
Yi Guo; Xiong Deng; Joseph Jankovic; Linyan Su; Jie Zhang; Weidong Le; Hongbo Xu; Zuocheng Yang; Jinsong Tang; Shoujin Kuang; Hao Deng
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-8-14
Journal Detail:
Title:  Neuroscience letters     Volume:  -     ISSN:  1872-7972     ISO Abbreviation:  Neurosci. Lett.     Publication Date:  2012 Aug 
Date Detail:
Created Date:  2012-8-24     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7600130     Medline TA:  Neurosci Lett     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2012. Published by Elsevier Ireland Ltd.
Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha, Hunan, China; Department of Neurology, the Third Xiangya Hospital, Central South University, Changsha, Hunan, China.
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