ArticleCNS neuroscience & therapeutics2013
PRRT2 c.649dupC mutation derived from de novo in paroxysmal kinesigenic dyskinesia.
Article in CNS neuroscience & therapeutics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 25 citations in OpenAlex.
- Article
- Paroxysmal Kinesigenic Dyskinesia: Genetics and Pathophysiological Mechanisms.Neuroscience bulletin · 2024Review
- A new genetic diagnosis strategy for paroxysmal kinesigenic dyskinesia: Targeted high-throughput detection of PRRT2 gene c.649 locus.Molecular genetics & genomic medicine · 2024Article
- PRRT2 Mutation and Serum Cytokines in Paroxysmal Kinesigenic Dyskinesia.Current medical science · 2022Article
- Clinical characteristics and genetics of ten Chinese children with PRRT2-associated neurological diseases.Frontiers in pediatrics · 2022Article
- Penetrance estimation of PRRT2 variants in paroxysmal kinesigenic dyskinesia and infantile convulsions.Frontiers of medicine · 2021Article
- A Novel PRRT2 Variant in Chinese Patients Suffering from Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsion.Behavioural neurology · 2020Article
- Functional study and pathogenicity classification of PRRT2 missense variants in PRRT2-related disorders.CNS neuroscience & therapeutics · 2020Article
- PRRT2 deficiency induces paroxysmal kinesigenic dyskinesia by regulating synaptic transmission in cerebellum.Cell research · 2018Article
- Mutation Analysis of MR-1, SLC2A1, and CLCN1 in 28 PRRT2-negative Paroxysmal Kinesigenic Dyskinesia Patients.Chinese medical journal · 2016Article
- Urine-derived induced pluripotent stem cells as a modeling tool for paroxysmal kinesigenic dyskinesia.Biology open · 2015Article
- Five cases of paroxysmal kinesigenic dyskinesia by genetic diagnosis.Experimental and therapeutic medicine · 2015Article
- PRRT2 mutations are related to febrile seizures in epileptic patients.International journal of molecular sciences · 2014Article
- Paroxysmal kinesigenic dyskinesia and myotonia congenita in the same family: coexistence of a PRRT2 mutation and two CLCN1 mutations.Neuroscience bulletin · 2014Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimsPRRT2 was recently identified as a causative gene for paroxysmal kinesigenic dyskinesia (PKD), and the c.649dupC mutation was shown to be a "high frequency" mutation. This mutation was also identified in many sporadic cases. This might be attributed to the incomplete penetrance of c.649dupC. Alternatively, c.649dupC might derive from de novo. The aim of this study is to elucidate the possibility concerning de novo mutagenesis of PRRT2 mutations in PKD.
methodsNine sporadic Chinese PKD patients including one Mongolian patient were recruited. Direct sequencing of PRRT2 was performed in them and their parents. Haplotype analysis was conducted to confirm the biological relationship.
resultsA novel mutation, c.133_136delCCAG, was identified in one Han patient and his unaffected mother. The c.649dupC mutation was detected in another Han patient and his unaffected father. To our interest, c.649dupC was detected in the Mongolian patient but not in his parents. Haplotype analysis confirmed the biological relationship among the trio. No mutations were identified in the remaining six patients.
conclusionThese findings demonstrate the heterogeneity of PKD, and the de novo mutagenesis of PRRT2 gene might indicate the genetic instability of this region.
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