ArticleJournal of molecular neuroscience : MN2008
Localization and mutation detection for paroxysmal kinesigenic choreoathetosis.
Article in Journal of molecular neuroscience : MN, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed, 7 citations in OpenAlex.
- Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis.Journal of medical genetics · 2012Article
- Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.Cell reports · 2012Article
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Authors and funding
13 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundParoxysmal kinesigenic choreoathetosis (PKC) is an autosomal-dominant movement disorder characterized by attacks of paroxysmal involuntary movements. To date, the causative gene has not been discovered. PURPOSE: The purpose of the study is to localize the causative region and detect the causative mutation.
methodsA PKC family including 16 subjects (5 cases and 11 controls) in Zhejiang Province was recruited. Nine microsatellite markers on chromosome 16 were selected and genotyped. Two-point LOD scores were calculated. After preliminary localization, CACNG3, IL4R and ABCC11 were selected as candidate genes and were detected by polymerase chain reaction-sequencing or PCR-denaturing high performance liquid chromatography (PCR-DHPLC).
resultsThe maximal two-point LOD score was obtained in D16S3081 with 1.21, and haplotype analysis revealed almost all of individuals carrying 5-3-8-3-4-2-5-5-6 in D16S3093/D16S685/D16S690/D16S3081/D16S3080 D16S411/D16S3136/D16S3112/D16S3057 were affected by PKC. There were no causative mutation in CACNG3, IL4R and ABCC11 genes.
conclusionsThe culprit gene for PKC was located in approximately 19.34 cM region between 16p12.1-q13, and CACNG3, IL4R and ABCC11 were all ruled out as the cause.
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