Abstract
Backgrounds
Paroxysmal 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.
Methods
A 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).
Results
The 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.
Conclusions
The culprit gene for PKC was located in ~19.34 cM region between 16p12.1–q13, and CACNG3, IL4R and ABCC11 were all ruled out as the cause.
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Acknowledgement
Authors thank all of the subjects involved in this study. We also thank the Research Fund supported by Natural Science Foundation of Beijing under Grant No.7042037 and Foundation for Innovative Research Groups of the National Natural Science Foundation of China under Grant No.30421003.
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Du, T., Feng, B., Wang, X. et al. Localization and Mutation Detection for Paroxysmal Kinesigenic Choreoathetosis. J Mol Neurosci 34, 101–107 (2008). https://doi.org/10.1007/s12031-007-9012-z
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DOI: https://doi.org/10.1007/s12031-007-9012-z