Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia.

Peter Hedera, Jianfeng Xiao, Andreas Puschmann, Dragana Momčilović, Steve W. Wu, Mark Ledoux

Research output: Contribution to journalArticle

19 Citations (Scopus)

Abstract

Recently, heterozygous mutations in PRRT2 (Chr 16p11.2) have been identified in Han Chinese, Japanese and Caucasians with paroxysmal kinesigenic dyskinesia. In previous work, a paroxysmal kinesigenic dyskinesia locus was mapped to Chr 16p11.2 - q11.2 in a multiplex African-American family. Sanger sequencing was used to analyze all four PRRT2 exons for sequence variants in 13 probands (9 Caucasian, 1 Caucasian-Thai, 1 Vietnamese and 2 African-American) with some form of paroxysmal dyskinesia. One patient of mixed Caucasian-Thai background and one African-American family harbored the previously described hotspot mutation in PRRT2 (c.649dupC, p.R217Pfs*8). Another African-American family was found to have a novel mutation (c.776dupG, p.E260*). Both of these variants are likely to cause loss-of-function via nonsense-mediated decay of mutant PRRT2 transcripts. All affected individuals had classic paroxysmal kinesigenic dyskinesia phenotypes. Heterozygous PRRT2 gene mutations also cause paroxysmal kinesigenic dyskinesia in African-Americans. The c.649dupC hotspot mutation in PRRT2 is common across racial groups.

Original languageEnglish (US)
JournalBMC Neurology
Volume12
StatePublished - Jan 1 2012

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African Americans
Mutation
Chorea
Exons
Familial paroxysmal dystonia
Phenotype
Genes

All Science Journal Classification (ASJC) codes

  • Clinical Neurology

Cite this

Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia. / Hedera, Peter; Xiao, Jianfeng; Puschmann, Andreas; Momčilović, Dragana; Wu, Steve W.; Ledoux, Mark.

In: BMC Neurology, Vol. 12, 01.01.2012.

Research output: Contribution to journalArticle

Hedera, Peter ; Xiao, Jianfeng ; Puschmann, Andreas ; Momčilović, Dragana ; Wu, Steve W. ; Ledoux, Mark. / Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia. In: BMC Neurology. 2012 ; Vol. 12.
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