Screening Cases of Isolated Dystonia and Controls for Variants in CIZ1. Homo sapiens

Recently, we have identified that variants in CIZ1 gene is associated with dystonia. To identify the prevalence of CIZ1 mutations in dystonia population, we use High resolution melting (HRM) to examine all the coding sequence in 3976 subjects with primary dystonia as well as 1819 subjects of normal controls. Indels in Q rich region of exon 2 in CIZ1 were identified in 21 subjects with dystonia but only 3 controls (PG, p.R263G) found in a female patient with apparently familial dystonia. We confirmed that mutations in CIZ1 could be associated with dystonia but in rare cases.