The Frequency of DYT1 (GAG Deletion) Mutation in Primary Dystonia Patients from Iran

Objective: to determine the frequency of dyt1 mutation in iranian patients affected with primary dystonia. materials and methods: in this study, we investigated 60 patients with primary dystonia who referred to the tehran medical genetics laboratory (tmgl) to determine the deletional mutation of 904-906 del gag in the dyt1 gene. dna extracted from patients’ peripheral blood was subjected to pcr-sequencing for exon 5 of the dyt1 gene. the collection of samples was based on random sampling. results: the deletional mutation of 904-906 del gag in the dyt1 gene (15099 to 15101 based on reference sequence: ng_008049.1) was identified in 11 patients (18.33%). the average age of affected patients with this mutation was 13.64 ± 7.4 years. conclusion: it can be concluded that the dyt1 deletional mutation of 904-906 del gag has a high frequency in iranian patients in comparison with other non-jewish populations. therefore, this particular mutation may be the main representative of pathogenic dyt1 gene for a large proportion of iranian patients with primary dystonia.