ArticleHuman genetics2013
Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome.
Article in Human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 27 citations in OpenAlex.
- The coordinated activities of collagen VI and XII in maintenance of tissue structure, function and repair: evidence for a physical interaction.Frontiers in molecular biosciences · 2024Article
- Contextual fear memory impairment in Angelman syndrome model mice is associated with altered transcriptional responses.Scientific reports · 2023Article
- Collagen VI deficiency causes behavioral abnormalities and cortical dopaminergic dysfunction.Disease models & mechanisms · 2022Article
- What can we learn from common variants associated with unexpected phenotypes in rare genetic diseases?Orphanet journal of rare diseases · 2021Article
- ECE2 regulates neurogenesis and neuronal migration during human cortical development.EMBO reports · 2020Article
- Collagen VI in healthy and diseased nervous system.Disease models & mechanisms · 2018Review
- Genetic and epigenetic mechanisms of epilepsy: a review.Neuropsychiatric disease and treatment · 2017Review
- Lack of collagen VI promotes neurodegeneration by impairing autophagy and inducing apoptosis during aging.Aging · 2016Article
- Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.American journal of human genetics · 2015Article
- Application of next-generation sequencing technologies in Neurology.Annals of translational medicine · 2014Review
- The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism.Journal of molecular medicine (Berlin, Germany) · 2013Article
- The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures.Human mutation · 2013Article
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In this study, a consanguineous family with progressive myoclonus epilepsy (PME) was clinically examined and molecularly investigated to determine the molecular events causing disease. Since exclusion of known genes indicated that novel genes causing PME still remained unidentified, homozygosity mapping, exome sequencing, as well as validation and disease-segregation analyses were subsequently carried out for both loci and gene identification. To further assure our results, a muscle biopsy and gene expression analyses were additionally performed. As a result, a homozygous, disease-segregating COL6A2 mutation, p.Asp215Asn, absent in a large number of control individuals, including control individuals of Iranian ancestry, was identified in both affected siblings. COL6A2 was shown to be expressed in the human cerebral cortex and muscle biopsy revealed no specific histochemical pathology. We conclude that the COL6A2 p.Asp215Asn mutation is likely to be responsible for PME in this family; however, additional studies are warranted to further establish the pathogenic role of both COL6A2 and the extracellular proteolysis system in the pathogenesis of PME.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.