THAP1 mutations (DYT6) are an additional cause of early-onset dystonia
THAP1 mutations (DYT6) are an additional cause of early-onset dystonia
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DOI：
10.1212/wnl.0b013e3181d5276d
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发表时间：
2010-03-09
期刊：
影响因子：
9.9
通讯作者：
Bhatia, K. P.
中科院分区：
文献类型：
--
作者：
Houlden, H.;Schneider, S. A.;Bhatia, K. P.
背景：DYT 6的临床表型主要包括原发性颅颈肌张力障碍。最近，THAP 1基因被确定为DYT 6的病因，在阿米什-门诺派和欧洲家族中总共发现了13个突变。方法：我们对362名遗传学未确定的英国原发性肌张力障碍患者的THAP 1基因进行了测序结果：① ① 28例DYT 1患者和176例正常对照组肌张力异常的发生率分别为98%、186%和78%，差异有统计学意义（P <0.05）;在THAP 1基因中鉴定了9个编码突变。2个是小缺失，2个是无义，5个是错义。8个突变为杂合子，1个为纯合子。THAP 1突变病例的主要临床表现是早发性（
Background: The clinical phenotype of DYT6 consists mainly of primary craniocervical dystonia. Recently, the THAP1 gene was identified as the cause of DYT6, where a total of 13 mutations have been identified in Amish-Mennonite and European families.Methods: We sequenced the THAP1 gene in a series of 362 British, genetically undetermined, primary dystonia patients (78 with focal, 186 with segmental, and 98 with generalized dystonia) and in 28 dystonia-manifesting DYT1 patients and 176 normal control individuals.Results: Nine coding mutations were identified in the THAP1 gene. Two were small deletions, 2 were nonsense, and 5 were missense. Eight mutations were heterozygous, and 1 was homozygous. The main clinical presentation of cases with THAP1 mutations was early-onset (