Identification of Genomic Rare Variants by Whole Genome Sequencing in Primary Torsion Dystonia

Background:Primary torsion dystonia (PTD) is a group of related movement disorders characterized by abnormal repetitive, twisting postures due to the involuntary co-contraction of opposing muscle groups. The research is based on whole genome sequencing technology of PTD patients to analyze the pathogenic genes and mutation sites in patients with primary dystonia, the relationship among genotype, clinical phenotype and prognosis. Methods: In order to investigate the association between the familial disease and its molecular mechanisms, 100 normal Han Chinese donors were also examined. The DNA of all the samples was sequenced using whole genome sequencing technique.The participants was conducted and submitted to the Macrogen Group (Seoul, Korea) for analysis.Results: We had detected the data output of precursor is 112.91G, throughut mean depth is 39.50X, mappable mean depth is 35.70X, genome coverage ratio is 99.50%.A novel heterozygous missense variant of uncertain significance (VUS) in ANO3 of Primary Torsion Dystonia had be found, but not in healthy control groups. Conclusions: Together, our results report a new mutation that may be similar in phenotype to known pathogenic genes, which will lay the foundation for future work. More families will be sequenced to identify more informations, which can help us to make the correct molecular diagnosis of the disease and to provide better genetic information.