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Sci Rep. 2016 May 12;6:25834. doi: 10.1038/srep25834.

Homozygous mutation of VPS16 gene is responsible for an autosomal recessive adolescent-onset primary dystonia.

Author information

1
Department of Neurosurgery, Shenzhen Second People's Hospital, Shenzhen University 1st Affiliated Hospital, Shenzhen, Guangdong 518035, China.
2
Department of Urology, Sun Yat-sen University Cancer Center; State Key Laboratory of Oncology in South China; Collaborative Innovation Center for Cancer Medicine, Guangzhou 510060, China.
3
BGI Cognitive Genomics Lab, Building No. 11, Beishan Industrial Zone, Yantian District, Shenzhen, Guangdong 518083, China.
4
Collaborative Innovation Center for Cancer Medicine National-Regional Key Technology Engineering Laboratory for Clinical Application of Cancer Genomics, Shenzhen Second People's Hospital, Shenzhen University 1stAffiliated Hospital, Shenzhen, Guangdong 518035, China.
5
The Central Laboratory, Shenzhen Second People's Hospital, Shenzhen University 1st Affiliated Hospital, Shenzhen, Guangdong 518035, China.
6
The First Clinical College of Anhui Medical University, Hefei 230032, China.
7
School of Medicine, Shandong University, 44 West Culture Road, Ji'nan, Shandong 250012, China.

Abstract

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.

PMID:
27174565
PMCID:
PMC4865952
DOI:
10.1038/srep25834
[Indexed for MEDLINE]
Free PMC Article

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