Beschreibung:
<jats:title>Abstract</jats:title>
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<jats:title>Background</jats:title>
<jats:p>Recently, heterozygous mutations in <jats:italic>PRRT2</jats:italic> (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.</jats:p>
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<jats:title>Methods</jats:title>
<jats:p>Sanger sequencing was used to analyze all four <jats:italic>PRRT2</jats:italic> exons for sequence variants in 13 probands (9 Caucasian, 1 Caucasian-Thai, 1 Vietnamese and 2 African-American) with some form of paroxysmal dyskinesia.</jats:p>
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<jats:title>Results</jats:title>
<jats:p>One patient of mixed Caucasian-Thai background and one African-American family harbored the previously described hotspot mutation in <jats:italic>PRRT2</jats:italic> (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 <jats:italic>PRRT2</jats:italic> transcripts. All affected individuals had classic paroxysmal kinesigenic dyskinesia phenotypes.</jats:p>
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<jats:title>Conclusions</jats:title>
<jats:p>Heterozygous <jats:italic>PRRT2</jats:italic> gene mutations also cause paroxysmal kinesigenic dyskinesia in African-Americans. The c.649dupC hotspot mutation in <jats:italic>PRRT2</jats:italic> is common across racial groups.</jats:p>
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