title: [Analysis of PRRT2 gene mutations in a Chinese family affected with paroxysmal kinesigenic dyskinesia].
abstract: OBJECTIVE
  To screen potential mutations of PRRT2 gene in a Chinese family affected with paroxysmal kinesigenic dyskinesia (PKD).
  
  
  METHODS
  Polymerase chain reaction, DNA sequencing and restriction endonuclaese analysis were used to analyze all members of the family.
  
  
  RESULTS
  A heterozygous mutation c.649dupC was identified in the PRRT2 gene in all patients, while no similar mutation was found in healthy members from the family.
  
  
  CONCLUSIONS
  The c.649dupC mutation of the PRRT2 gene probably underlies the PKD in this family. Prenatal diagnosis can reduce the risk for further birth of affected children for this family.
authors.affiliation: Henan Medical Genetics Institute, People's Hospital of Zhengzhou University, Henan Provincial People's Hospital, Zhengzhou, Henan 450003, China. ychslshx@126.com.
authors.forename: Hui
authors.initials: H
authors.lastname: Zhang
authors.forename: Weili
authors.initials: W
authors.lastname: Shi
authors.forename: Hai
authors.initials: H
authors.lastname: Xiao
authors.forename: Dong
authors.initials: D
authors.lastname: Wu
authors.forename: Litao
authors.initials: L
authors.lastname: Qin
authors.forename: Shixiu
authors.initials: S
authors.lastname: Liao
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D002681:China; D004252:DNA Mutational Analysis; D004421:Dystonia / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000235:genetics*; D055815:Young Adult
chemical_list: D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C569370:PRRT2 protein, human