PRRT2 c.649dupC mutation derived from de novo in paroxysmal kinesigenic dyskinesia.

ABSTRACT:

Aims

PRRT2 was recently identified as a causative gene for paroxysmal kinesigenic dyskinesia (PKD), and the c.649dupC mutation was shown to be a "high frequency" mutation. This mutation was also identified in many sporadic cases. This might be attributed to the incomplete penetrance of c.649dupC. Alternatively, c.649dupC might derive from de novo. The aim of this study is to elucidate the possibility concerning de novo mutagenesis of PRRT2 mutations in PKD.

Methods

Nine sporadic Chinese PKD patients including one Mongolian patient were recruited. Direct sequencing of PRRT2 was performed in them and their parents. Haplotype analysis was conducted to confirm the biological relationship.

Results

A novel mutation, c.133_136delCCAG, was identified in one Han patient and hi

SUBMITTER: Li HF 

PROVIDER: S-EPMC6493561 | biostudies-literature | 2013 Jan

REPOSITORIES: biostudies-literature