New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3).

ABSTRACT: X-linked recessive dystonia-parkinsonism is a rare movement disorder that is highly prevalent in Panay Island in the Philippines. Earlier studies identified seven different genetic alterations within a 427-kb disease locus on the X chromosome; however, the exact disease-causing variant among these is still not unequivocally determined. To further investigate the genetic cause of this disease, we sequenced all previously reported genetic alterations in 166 patients and 473 Filipino controls. Singly occurring variants in our ethnically matched controls would have allowed us to define these as polymorphisms, but none were found. Instead, we identified five patients carrying none of the disease-associated variants, and one male control carrying all of them. In parallel, we searched for novel s

SUBMITTER: Domingo A 

PROVIDER: S-EPMC4592086 | biostudies-literature | 2015 Oct

REPOSITORIES: biostudies-literature