DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene.

摘要: By family-based screening, first Fuchs and then many other authors showed that mutations in THAP1 (THAP [thanatos-associated protein] domain-containing, apoptosis-associated protein 1) account for a substantial proportion of familial, early-onset, nonfocal, primary dystonia cases (DYT6 dystonia). is the transcriptional factor involved hypothesis deregulation, which was primarily proposed X-linked dystonia-parkinsonism (DYT3 dystonia), provided thus new way to investigate possible mechanism underlying development dystonic movements. Currently, 56 families present with mutation; however, no genotype/phenotype relationship has been found. Therefore, we carried out systematic review literature on gene colligate all reported patients specific mutation associated clinical signs order describe broad phenotypic continuum this disorder. To facilitate comparison identified mutations, created Locus-Specific Database (UMD-THAP1 LSDB) available at http://www.umd.be/THAP1/. database lists probands 43 relatives phenotype when available. The identification larger number collection high-quality information each described through international collaborative effort will help investigating structure-function genotype-phenotype correlations DYT6 dystonia.