THAP1 mutations (DYT6) are an additional cause of early-onset dystonia.

ABSTRACT:

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

SUBMITTER: Houlden H 

PROVIDER: S-EPMC2839194 | biostudies-literature | 2010 Mar

REPOSITORIES: biostudies-literature