ArticleNeurology2014
Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome.
Article in Neurology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 33 citations in OpenAlex.
- RIP-PEN-seq identifies a class of kink-turn RNAs as splicing regulators.Nature biotechnology · 2024Article
- Novel CWF19L1 mutations in patients with spinocerebellar ataxia, autosomal recessive 17.Journal of human genetics · 2023Article
- Heterozygous pathogenic variants in CWF19L1 in a Chinese family with spinocerebellar ataxia, autosomal recessive 17.Journal of clinical laboratory analysis · 2022Article
- Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain.Neurology. Genetics · 2022Article
- Zebrafish Models of Autosomal Recessive Ataxias.Cells · 2021Review
- Natural Genetic Variation Screen inG3 (Bethesda, Md.) · 2019Article
- The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force.Cerebellum (London, England) · 2019Review
- Structures of the human spliceosomes before and after release of the ligated exon.Cell research · 2019Article
- Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability.Human genetics · 2018Article
- Phosphotyrosine profiling of human cerebrospinal fluid.Clinical proteomics · 2018Article
- Altered Gene-Regulatory Function of KDM5C by a Novel Mutation Associated With Autism and Intellectual Disability.Frontiers in molecular neuroscience · 2018Article
- Systematic review of autosomal recessive ataxias and proposal for a classification.Cerebellum & ataxias · 2017Review
- Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy.European journal of human genetics : EJHG · 2016Article
- Article
- Function Over Form: Modeling Groups of Inherited Neurological Conditions in Zebrafish.Frontiers in molecular neuroscience · 2016Review
- CANPMR syndrome and chromosome 1p32-p31 deletion syndrome coexist in two related individuals affected by simultaneous haplo-insufficiency of CAMTA1 and NIFA genes.Molecular cytogenetics · 2016Article
- Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing.Journal of neurology · 2015Review
- De novo point mutations in patients diagnosed with ataxic cerebral palsy.Brain : a journal of neurology · 2015Article
- PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.Brain : a journal of neurology · 2015Article
Corrections and comments
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Authors and funding
8 authors at 1 institution in 2 countries.
Funding
Abstract
objectiveTo elucidate the genetic cause of a rare recessive ataxia presented by 2 siblings from a consanguineous Turkish family with a nonprogressive, congenital ataxia with mental retardation of unknown etiology.
methodsWhole-exome sequencing was combined with homozygosity mapping, linkage, and expression analysis to identify candidate genes, confirmed by Sanger sequencing. Reverse transcription-PCR and immunoblotting were used to determine the functional consequences of the gene variant. A zebrafish model was developed using morpholino-mediated knockdown.
resultsWe identified a homozygous mutation at the invariant +1 position (c.964+1G>A) in intron 9 of the CWF19L1 (complexed with cdc5 protein 19-like 1) gene. This mutation is absent in >6,500 European and African American individuals and 200 Turkish control DNAs. The mutation causes exon skipping, reduction in messenger RNA levels, and protein loss in cell lines of affected individuals. Morpholino-mediated knockdown in a zebrafish model demonstrates that loss of the evolutionarily highly conserved CWF19L1, whose normal biological function is unknown, alters cerebellar morphology and causes movement abnormalities.
conclusionsOur results suggest that CWF19L1 mutations may be a novel cause of recessive ataxia with developmental delay. Our research may help with diagnosis, especially in Turkey, identify causes of other ataxias, and may lead to novel therapies.
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