Localization and mutation detection for paroxysmal kinesigenic choreoathetosis.
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.


OBJECTIVE
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.
Du
Te
T
National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, 5 Dongdan 3 Tiao, Beijing 100005, China.
Feng
Bin
B
Wang
Xin
X
Mao
Wei
W
Zhu
Xilin
X
Li
Liping
L
Sun
Bei
B
Niu
Nifang
N
Liu
Yang
Y
Wang
Yuping
Y
Chen
Biao
B
Cai
Xingqiu
X
Liu
Ying
Y
D001264:Athetosis / Q000235:genetics*; D002681:China; D002819:Chorea / Q000235:genetics*; D002885:Chromosomes, Human, Pair 16; D004252:DNA Mutational Analysis; D005260:Female; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide