(HealthDay News) – Mutations in CIZ1 may cause adult-onset primary cervical dystonia.

Jianfeng Xiao, MD, PhD, of University of Tennessee Health Science Center in Memphis, and associates combined linkage and haplotype analyses with whole-exome capture and massively parallel sequencing to identify a cosegregating mutation which causes adult-onset primary cervical dystonia. Three hundred eight Caucasian adults with adult-onset cervical dystonia and matching controls underwent high-throughput screening and Sanger sequencing.

The researchers identified an exonic splicing enhancer mutation in exon 7 of CIZ1 (c.790A>G, p.S264G), which encodes a Cip1-interacting zinc finger protein 1 expressed in the brain. The c.790A>G mutation altered CIZ1 splicing patterns and p.S264G altered the nuclear localization of the protein. Two additional CIZ1 missense mutations were seen adult-onset cervical dystonia.

“Mutations in CIZ1 may cause adult-onset, primary cervical dystonia, possibly by precipitating neurodevelopmental abnormalities that manifest in adults and/or G1/S cell-cycle dysregulation in the mature central nervous system,” the authors write.

Several authors disclosed either financial ties to the pharmaceutical industry, receipt of patent royalties, and/or receipt of financial compensation from a law firm.

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