Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia
Hedera, Peter ; Xiao, Jianfeng ; Puschmann, Andreas LU
; Momcilovic, Dragana
; Wu, Steve W.
and LeDoux, Mark S.
(2012)
In BMC Neurology
12(93).
- Abstract
- Background: 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. Methods: 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. Results: 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... (More)
- Background: 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. Methods: 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. Results: 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. Conclusions: Heterozygous PRRT2 gene mutations also cause paroxysmal kinesigenic dyskinesia in African-Americans. The c.649dupC hotspot mutation in PRRT2 is common across racial groups. (Less)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/3187971
- author
- Hedera, Peter
; Xiao, Jianfeng
; Puschmann, Andreas
LU
; Momcilovic, Dragana
; Wu, Steve W.
and LeDoux, Mark S.
- organization
- publishing date
- 2012
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- PKD, PRRT2, African-American, ICCA, Hotspot mutation
- in
- BMC Neurology
- volume
- 12
- issue
- 93
- publisher
- BioMed Central (BMC)
- external identifiers
-
- wos:000309394700001
- scopus:84866279746
- pmid:22985072
- ISSN
- 1471-2377
- DOI
- 10.1186/1471-2377-12-93
- language
- English
- LU publication?
- yes
- id
- 2314d9f1-431e-442c-9128-47b70cdb866a (old id 3187971)
- date added to LUP
- 2016-04-01 12:51:54
- date last changed
- 2023-10-14 18:24:59
@article{2314d9f1-431e-442c-9128-47b70cdb866a,
abstract = {{Background: 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. Methods: 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. Results: 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. Conclusions: Heterozygous PRRT2 gene mutations also cause paroxysmal kinesigenic dyskinesia in African-Americans. The c.649dupC hotspot mutation in PRRT2 is common across racial groups.}},
author = {{Hedera, Peter and Xiao, Jianfeng and Puschmann, Andreas and Momcilovic, Dragana and Wu, Steve W. and LeDoux, Mark S.}},
issn = {{1471-2377}},
keywords = {{PKD; PRRT2; African-American; ICCA; Hotspot mutation}},
language = {{eng}},
number = {{93}},
publisher = {{BioMed Central (BMC)}},
series = {{BMC Neurology}},
title = {{Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia}},
url = {{https://lup.lub.lu.se/search/files/3020052/3694148.pdf}},
doi = {{10.1186/1471-2377-12-93}},
volume = {{12}},
year = {{2012}},
}