title: PRRT2 mutations in paroxysmal kinesigenic dyskinesia with infantile convulsions in a Taiwanese cohort.
abstract: BACKGROUND
  Mutations in the PRRT2 gene have recently been identified in patients with familial paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) and patients with sporadic PKD/IC from several ethnic groups. To extend these recent genetic reports, we investigated the frequency and identities of PRRT2 mutations in a cohort of Taiwanese patients with PKD/IC.
  
  
  RESULTS
  We screened all 3 coding exons of PRRT2 for mutations in 28 Taiwanese patients with PKD/IC. Among them, 13 had familial PKD/IC and 15 were apparently sporadic cases. In total, 7 disparate mutations were identified in 13 patients, including 8 familial cases and 5 apparently sporadic cases. The mutations were not present in 500 healthy controls. Four mutations were novel. One patient had a missense mutation and all other patients carried PRRT2 mutations putatively resulting in a protein truncation. Haplotype analysis revealed that 5 of the 7 patients with the PRRT2 p.R217Pfs*8 mutation shared the same haplotype linked to the mutation.
  
  
  CONCLUSIONS
  PRRT2 mutations account for 61.5% (8 out of 13) of familial PKD/IC and 33.3% (5 out of 15) of apparently sporadic PKD/IC in the Taiwanese cohort. Most patients with the PRRT2 p.R217Pfs*8 mutation in Taiwan likely descend from a single common ancestor. This study expands the spectrum of PKD/IC-associated PRRT2 mutations, highlights the pathogenic role of PRRT2 mutations in PKD/IC, and suggests genetic heterogeneity within idiopathic PKD.
authors.affiliation: Department of Neurology, Taipei Veterans General Hospital, Taipei, Taiwan. ycli@vghtpe.gov.tw
authors.forename: Yi-Chung
authors.initials: YC
authors.lastname: Lee
authors.forename: Ming-Jen
authors.initials: MJ
authors.lastname: Lee
authors.forename: Hsiang-Yu
authors.initials: HY
authors.lastname: Yu
authors.forename: Chien
authors.initials: C
authors.lastname: Chen
authors.forename: Chang-Hung
authors.initials: CH
authors.lastname: Hsu
authors.forename: Kon-Ping
authors.initials: KP
authors.lastname: Lin
authors.forename: Kwong-Kum
authors.initials: KK
authors.lastname: Liao
authors.forename: Ming-Hong
authors.initials: MH
authors.lastname: Chang
authors.forename: Yi-Chu
authors.initials: YC
authors.lastname: Liao
authors.forename: Bing-Wen
authors.initials: BW
authors.lastname: Soong
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People; D002648:Child; D002819:Chorea / Q000453:epidemiology / Q000235:genetics*; D015331:Cohort Studies; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D020125:Mutation, Missense; D009419:Nerve Tissue Proteins / Q000235:genetics*; D012640:Seizures; D013624:Taiwan / Q000453:epidemiology
chemical_list: D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C569370:PRRT2 protein, human