PMID- 17952630
OWN - NLM
STAT- MEDLINE
DCOM- 20080505
LR  - 20211020
IS  - 0895-8696 (Print)
IS  - 0895-8696 (Linking)
VI  - 34
IP  - 2
DP  - 2008 Feb
TI  - Localization and mutation detection for paroxysmal kinesigenic choreoathetosis.
PG  - 101-7
AB  - 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.
FAU - Du, Te
AU  - Du T
AD  - National Laboratory of Medical Molecular Biology, Institute of Basic Medical 
      Sciences, Chinese Academy of Medical Sciences, 5 Dongdan 3 Tiao, Beijing 100005, 
      China.
FAU - Feng, Bin
AU  - Feng B
FAU - Wang, Xin
AU  - Wang X
FAU - Mao, Wei
AU  - Mao W
FAU - Zhu, Xilin
AU  - Zhu X
FAU - Li, Liping
AU  - Li L
FAU - Sun, Bei
AU  - Sun B
FAU - Niu, Nifang
AU  - Niu N
FAU - Liu, Yang
AU  - Liu Y
FAU - Wang, Yuping
AU  - Wang Y
FAU - Chen, Biao
AU  - Chen B
FAU - Cai, Xingqiu
AU  - Cai X
FAU - Liu, Ying
AU  - Liu Y
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20071019
PL  - United States
TA  - J Mol Neurosci
JT  - Journal of molecular neuroscience : MN
JID - 9002991
SB  - IM
MH  - Athetosis/*genetics
MH  - China
MH  - Chorea/*genetics
MH  - Chromosomes, Human, Pair 16
MH  - DNA Mutational Analysis
MH  - Female
MH  - Genetic Linkage
MH  - Genotype
MH  - Humans
MH  - Lod Score
MH  - Male
MH  - Microsatellite Repeats
MH  - Pedigree
MH  - Polymorphism, Single Nucleotide
EDAT- 2007/10/24 09:00
MHDA- 2008/05/06 09:00
CRDT- 2007/10/24 09:00
PHST- 2006/07/11 00:00 [received]
PHST- 2006/07/30 00:00 [accepted]
PHST- 2007/10/24 09:00 [pubmed]
PHST- 2008/05/06 09:00 [medline]
PHST- 2007/10/24 09:00 [entrez]
AID - 10.1007/s12031-007-9012-z [doi]
PST - ppublish
SO  - J Mol Neurosci. 2008 Feb;34(2):101-7. doi: 10.1007/s12031-007-9012-z. Epub 2007 
      Oct 19.