Mutation screening of the HTR2B gene in patients with Tourette syndrome.
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.
Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha, Hunan, China.
Yi
Y
Guo
Xiong
X
Deng
Joseph
J
Jankovic
Linyan
L
Su
Jie
J
Zhang
Weidong
W
Le
Hongbo
H
Xu
Zuocheng
Z
Yang
Jinsong
J
Tang
Shoujin
S
Kuang
Hao
H
Deng
D000293:Adolescent; D000328:Adult; D044466:Asian People; D016022:Case-Control Studies; D002648:Child; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D009154:Mutation; D044403:Receptor, Serotonin, 5-HT2B / Q000235:genetics*; D005879:Tourette Syndrome / Q000208:ethnology / Q000235:genetics*; D044465:White People; D055815:Young Adult
D044403:Receptor, Serotonin, 5-HT2B