title: Novel Locus for Paroxysmal Kinesigenic Dyskinesia Mapped to Chromosome 3q28-29.
abstract: Paroxysmal kinesigenic dyskinesia (PKD) is characterized by recurrent and brief attacks of dystonia or chorea precipitated by sudden movements. It can be sporadic or familial. Proline-Rich Transmembrane Protein 2 (PRRT2) has been shown to be a common causative gene of PKD. However, less than 50% of patients with primary PKD harbor mutations in PRRT2. The aim of this study is to use eight families with PKD to identify the pathogenic PRRT2 mutations, or possible novel genetic cause of PKD phenotypes. After extensive clinical investigation, direct sequencing and mutation analysis of PRRT2 were performed on patients from eight PKD families. A genome-wide STR and SNP based linkage analysis was performed in one large family that is negative for pathogenic PRRT2 mutations. Using additional polymorphic markers, we identified a novel gene locus on chromosome 3q in this PRRT2-mutation-negative PKD family. The LOD score for the region between markers D3S1314 and D3S1256 is 3.02 and we proposed to designate this locus as Episodic Kinesigenic Dyskinesia (EKD3). Further studies are needed to identify the causative gene within this locus.
authors.affiliation: Department of Neurology, the Third Xiangya Hospital, Central South University, Changsha, Hunan, China.
authors.forename: Ding
authors.initials: D
authors.lastname: Liu
authors.affiliation: Department of Rehabilitation, the Second Hospital of Hebei Medical University, Hebei, China.
authors.forename: Yumiao
authors.initials: Y
authors.lastname: Zhang
authors.affiliation: Comprehensive Epilepsy Center, Department of Neurology, University of Michigan, Ann Arbor, Michigan, USA.
authors.forename: Yu
authors.initials: Y
authors.lastname: Wang
authors.affiliation: Department of Neurology, The First Hospital of Changsha, Changsha, Hunan, China.
authors.forename: Chanjuan
authors.initials: C
authors.lastname: Chen
authors.affiliation: Key Laboratory of Genome Sciences and Information, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, China.
authors.forename: Xin
authors.initials: X
authors.lastname: Li
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
authors.forename: Jinxia
authors.initials: J
authors.lastname: Zhou
authors.affiliation: Department of Neurology, the Third Xiangya Hospital, Central South University, Changsha, Hunan, China.
authors.forename: Zhi
authors.initials: Z
authors.lastname: Song
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
authors.forename: Bo
authors.initials: B
authors.lastname: Xiao
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
authors.forename: Kevin
authors.initials: K
authors.lastname: Rasco
authors.affiliation: Key Laboratory of Genome Sciences and Information, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, China.
authors.forename: Feng
authors.initials: F
authors.lastname: Zhang
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
authors.forename: Shu
authors.initials: S
authors.lastname: Wen
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
authors.forename: Guoliang
authors.initials: G
authors.lastname: Li
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D004421:Dystonia / Q000235:genetics*; D005190:Family; D005260:Female; D056426:Genetic Loci; D055106:Genome-Wide Association Study; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics; D010375:Pedigree; D055815:Young Adult
chemical_list: D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C569370:PRRT2 protein, human