ArticleNeurogenetics2009
Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization.
Article in Neurogenetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 27 citations in OpenAlex.
- Unexpected complexity in the molecular diagnosis of spastic paraplegia 11.Molecular genetics & genomic medicine · 2024Article
- Neuroinflammatory disease signatures in SPG11-related hereditary spastic paraplegia patients.Acta neuropathologica · 2024Article
- Hereditary Spastic Paraplegia Type 11-Clinical, Genetic and Neuroimaging Characteristics.International journal of molecular sciences · 2023Article
- Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies.European journal of human genetics : EJHG · 2023Article
- Overlapping spectrums: The clinicogenetic commonalities between Charcot-Marie-Tooth and other neurodegenerative diseases.Brain research · 2020Review
- Cellular neurometabolism: a tentative to connect cell biology and metabolism in neurology.Journal of inherited metabolic disease · 2018Review
- Tideglusib Rescues Neurite Pathology of SPG11 iPSC Derived Cortical Neurons.Frontiers in neuroscience · 2018Article
- Severe axonal neuropathy is a late manifestation of SPG11.Journal of neurology · 2016Article
- Genetic and phenotypic characterization of complex hereditary spastic paraplegia.Brain : a journal of neurology · 2016Article
- GSK3ß-dependent dysregulation of neurodevelopment in SPG11-patient induced pluripotent stem cell model.Annals of neurology · 2016Article
- Dysfunction of spatacsin leads to axonal pathology in SPG11-linked hereditary spastic paraplegia.Human molecular genetics · 2014Article
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Authors and funding
13 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in the spatacsin gene have recently been identified as the genetic cause of autosomal-recessive spastic paraplegia (SPG) with thin corpus callosum, mapping to chromosome 15p13-21. While several nonsense and frameshift mutations as well as splice mutations have been identified, large genomic deletions have not yet been found, potentially due to the absence of an efficient analysis tool. After complete sequencing of 12 autosomal recessive hereditary spastic paraplegia patients with suggestive clinical signs, we were able to define nine SPG11 cases but were left with three patients in which only one SPG11 mutation could be identified by direct sequencing. In these patients, we performed high-resolution comparative genomic hybridization using a predesigned human chromosome 15 tiling array with an average spacing of 100 bp. Data analysis suggested heterozygous genomic deletion within the spatacsin gene in all three patients. In one patient, a relatively small genomic deletion (8.2 kb) could be validated by quantitative polymerase chain reaction (PCR) and long-range PCR, allowing the diagnosis of the deletion of exons 31 through 34. For two patients, quantitative PCR validation could not confirm a genomic deletion. As high density tiling arrays are available for the entire human genome, we suggest this approach for the screening of heterozygous genomic deletions in candidate genes down to a few kilobases.
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