ArticleAnnals of neurology2012
Mutations in CIZ1 cause adult onset primary cervical dystonia.
Article in Annals of neurology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 67 papers.
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Who cites it
67 citing papers in PubMed, 137 citations in OpenAlex.
- Increased burden of rare protein-truncating variants in constrained, brain-specific and synaptic genes in extremely impulsively violent males with antisocial personality disorder.Genes, brain, and behavior · 2024Article
- Acupuncture for cervical dystonia associated with anxiety and depression: A case report.World journal of clinical cases · 2024Article
- Article
- Comparison of Oropharyngeal Dysphagia Before and After Botulinum Toxin Injection in Cervical Dystonia.Dysphagia · 2023Article
- Genetic Screening of a Hungarian Cohort with Focal Dystonia Identified Several Novel Putative Pathogenic Gene Variants.International journal of molecular sciences · 2023Article
- Derivation of a minimal functional XIST by combining human and mouse interaction domains.Human molecular genetics · 2023Article
- Prion-like domains drive CIZ1 assembly formation at the inactive X chromosome.The Journal of cell biology · 2022Article
- Isolated dystonia: clinical and genetic updates.Journal of neural transmission (Vienna, Austria : 1996) · 2021Review
- Genetic Dystonias: Update on Classification and New Genetic Discoveries.Current neurology and neuroscience reports · 2021Review
- Identification of DHX9 as a cell cycle regulated nucleolar recruitment factor for CIZ1.Scientific reports · 2020Article
- Article
- Blepharospasm: A genetic screening study in 132 patients.Parkinsonism & related disorders · 2019Article
- Network localization of cervical dystonia based on causal brain lesions.Brain : a journal of neurology · 2019Article
- Screening Gene Mutations in Chinese Patients With Benign Essential Blepharospasm.Frontiers in neurology · 2019Article
- Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders.JAMA neurology · 2018Article
- Consequences of Cre-mediated deletion of Ciz1 exon 5 in mice.FEBS letters · 2018Article
- DNA damage and neurodegenerative phenotypes in aged Ciz1 null mice.Neurobiology of aging · 2018Article
- CIZ1-F, an alternatively spliced variant of the DNA replication protein CIZ1 with distinct expression and localisation, is overrepresented in early stage common solid tumours.Cell cycle (Georgetown, Tex.) · 2018Article
- Recent advances in understanding and managing dystonia.F1000Research · 2018Review
- Identification of a novel genetic locus underlying tremor and dystonia.Human genomics · 2017Article
7 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
11 authors at 6 institutions in 2 countries.
Funding
Abstract
objectivePrimary dystonia is usually of adult onset, can be familial, and frequently involves the cervical musculature. Our goal was to identify the causal mutation in a family with adult onset, primary cervical dystonia.
methodsLinkage and haplotype analyses were combined with solution-based whole-exome capture and massively parallel sequencing in a large Caucasian pedigree with adult onset, primary cervical dystonia to identify a cosegregating mutation. High-throughput screening and Sanger sequencing were completed in 308 Caucasians with familial or sporadic adult onset cervical dystonia and matching controls for sequence variants in this mutant gene.
resultsExome sequencing led to the identification of an exonic splicing enhancer mutation in exon 7 of CIZ1 (c.790A>G, p.S264G), which encodes CIZ1, Cip1-interacting zinc finger protein 1. CIZ1 is a p21(Cip1/Waf1) -interacting zinc finger protein expressed in brain and involved in DNA synthesis and cell-cycle control. Using a minigene assay, we showed that c.790A>G altered CIZ1 splicing patterns. The p.S264G mutation also altered the nuclear localization of CIZ1. Screening in subjects with adult-onset cervical dystonia identified 2 additional CIZ1 missense mutations (p.P47S and p.R672M).
interpretationMutations 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.
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Registered trials
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