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. 2008 Feb;34(2):101-7.
doi: 10.1007/s12031-007-9012-z. Epub 2007 Oct 19.

Localization and mutation detection for paroxysmal kinesigenic choreoathetosis

Te Du  1 , Bin Feng, Xin Wang, Wei Mao, Xilin Zhu, Liping Li, Bei Sun, Nifang Niu, Yang Liu, Yuping Wang, Biao Chen, Xingqiu Cai, Ying Liu
Affiliations

Localization and mutation detection for paroxysmal kinesigenic choreoathetosis

Te Du et al. J Mol Neurosci. 2008 Feb.

Abstract

Background: 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 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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References

    1. Clin Neurophysiol. 2001 Jan;112(1):2-18 - PubMed
    1. Pediatr Neurol. 2005 Apr;32(4):229-35 - PubMed
    1. Epilepsia. 1999 Jul;40(7):942-9 - PubMed
    1. Neurology. 2000 Jan 11;54(1):125-30 - PubMed
    1. Am J Hum Genet. 1999 Dec;65(6):1688-97 - PubMed

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