机构：[1]Neurology Department, Fourth Affiliated Hospital of KunmingMedical University, Kunming, China[2]Department of Ultrasound, FirstPeople’s Hospital of Yunnan Province, Kunming, China云南省第一人民医院[3]Obstetricsand Gynecology Department, First Affiliated Hospital of KunmingMedical University, Kunming, China外科科室妇产科产科妇科昆明医科大学附属第一医院[4]Department of MedicalGenetics, Institute of Medical Biology, Chinese Academy of MedicalSciences and Peking Union Medical College, Kunming, China
Background: TOR1A has been proposed as an important genetic factor in early-onset isolated dystonia. Variants located in the 30 untranslated region of TOR1A are of particular importance because they may influence gene expression, although related studies are limited. The objectives of the present study focused on variants in the TOR1A 30 untranslated region. Methods: The last exon of TOR1A was sequenced in 229 cases with isolated dystonia and in 210 controls. In addition, 471 controls were tested to determine the frequency of the variants in the 30 untranslated region. Results: Except for c.904_906delGAG,3 rare sequence variants (NM_000113.2:c.*454T>A, NM_000113.2: c.860C>A [rs766483672], and NM_000113.2:c.*302T>A [rs563498119]) were found only in the patients. The c.*302T>A variant was located in the conserved region of the human microRNA (hsa-miR-494) binding site. A luciferase reporter assay showed that c.*302T>A significantly altered gene expression. Conclusions: Population frequencies, computational analyses, and function experiments in this study implied that c.*302T>A is associated with dystonia. (C) 2017 International Parkinson and Movement Disorder Society
基金：
Peking Union Medical College Youth Fund; Fundamental Research Funds for the Central UniversitiesFundamental Research Funds for the Central Universities [3332013085, 33320140013]; Chinese National Natural Science FoundationNational Natural Science Foundation of China [31571304]; Application of Basic Research Project - Yunnan Provincial Science and Technology Department; Kunming Medical University [2011FB230]
第一作者机构：[1]Neurology Department, Fourth Affiliated Hospital of KunmingMedical University, Kunming, China
通讯作者：
通讯机构：[*1]Department of Medical Genetics, Institute of Medical Biology, Chinese Academy of Medical Sciences & Peking Union Medical College, 935 Jiaoling Road, Kunming, Yunnan 650118, China
推荐引用方式(GB/T 7714)：
Long Yuzhou,Chen Yang,Qian Yuan,et al.A Rare Variant in TOR1A Exon 5 Associated With Isolated Dystonia in Southwestern Chinese[J].MOVEMENT DISORDERS.2017,32(7):1083-1087.doi:10.1002/mds.27016.
APA：
Long, Yuzhou,Chen, Yang,Qian, Yuan,Wang, Jianlin,Luo, Lihua...&Sun, Hao.(2017).A Rare Variant in TOR1A Exon 5 Associated With Isolated Dystonia in Southwestern Chinese.MOVEMENT DISORDERS,32,(7)
MLA：
Long, Yuzhou,et al."A Rare Variant in TOR1A Exon 5 Associated With Isolated Dystonia in Southwestern Chinese".MOVEMENT DISORDERS 32..7(2017):1083-1087
医学