TY - JOUR
T1 - Mutation screening of the HTR2B gene in patients with Tourette syndrome
AU - Guo, Yi
AU - Deng, Xiong
AU - Jankovic, Joseph
AU - Su, Linyan
AU - Zhang, Jie
AU - Le, Weidong
AU - Xu, Hongbo
AU - Yang, Zuocheng
AU - Tang, Jinsong
AU - Kuang, Shoujin
AU - Deng, Hao
N1 - Funding Information:
This work was funded by National Natural Science Foundation of China ( 30871351 , 81101339 ), Sheng Hua Scholars Program of Central South University, China (H.D.), the Fundamental Research Funds for the Central Universities ( 2011JQ014 ), Research Fund for the Doctoral Program of Higher Education of China ( 20110162110026 ), Construction Fund for Key Subjects of the Third Xiangya Hospital, Central South University and Students Innovative Pilot Scheme of Central South University ( CL11280 , DL11446 , DL11447 ), China. The authors thank the participating patients for their cooperation and their efforts in collecting the genetic information and DNA specimens.
Copyright:
Copyright 2013 Elsevier B.V., All rights reserved.
PY - 2012/9/27
Y1 - 2012/9/27
N2 - 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.
AB - 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.
KW - Mutation
KW - Susceptibility
KW - The HTR2B gene
KW - Tourette syndrome
KW - Variant
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U2 - 10.1016/j.neulet.2012.08.013
DO - 10.1016/j.neulet.2012.08.013
M3 - Article
C2 - 22917605
AN - SCOPUS:84865968912
VL - 526
SP - 150
EP - 153
JO - Neuroscience Letters
JF - Neuroscience Letters
SN - 0304-3940
IS - 2
ER -