Novel THAP1 sequence variants in primary dystonia.

ABSTRACT:

Background

THAP1 encodes a transcription factor (THAP1) that harbors an atypical zinc finger domain and regulates cell proliferation. An exon 2 insertion/deletion frameshift mutation in THAP1 is responsible for DYT6 dystonia in Amish-Mennonites. Subsequent screening efforts in familial, mainly early-onset, primary dystonia identified additional THAP1 sequence variants in non-Amish subjects.

Objective

To examine a large cohort of subjects with mainly adult-onset primary dystonia for sequence variants in THAP1.

Methods

With high-resolution melting, all 3 THAP1 exons were screened for sequence variants in 1,114 subjects with mainly adult-onset primary dystonia, 96 with unclassified dystonia, and 600 controls (400 neurologically normal and 200 with Parkinson disease). In

SUBMITTER: Xiao J 

PROVIDER: S-EPMC2809032 | biostudies-literature | 2010 Jan

REPOSITORIES: biostudies-literature