| First Author | Cai X | Year | 2016 |
| Journal | Sci Rep | Volume | 6 |
| Pages | 25834 | PubMed ID | 27174565 |
| Mgi Jnum | J:243974 | Mgi Id | MGI:5912753 |
| Doi | 10.1038/srep25834 | Citation | Cai X, et al. (2016) Homozygous mutation of VPS16 gene is responsible for an autosomal recessive adolescent-onset primary dystonia. Sci Rep 6:25834 |
| abstractText | Dystonia is a neurological movement disorder that is clinically and genetically heterogeneous. Herein, we report the identification a novel homozygous missense mutation, c.156 C > A in VPS16, co-segregating with disease status in a Chinese consanguineous family with adolescent-onset primary dystonia by whole exome sequencing and homozygosity mapping. To assess the biological role of c.156 C > A homozygous mutation of VPS16, we generated mice with targeted mutation site of Vps16 through CRISPR-Cas9 genome-editing approach. Vps16 c.156 C > A homozygous mutant mice exhibited significantly impaired motor function, suggesting that VPS16 is a new causative gene for adolescent-onset primary dystonia. |
