Purpose of the study: Though rare, children are susceptible to paroxysmal dyskinesias such as paroxysmal kinesigenic dyskinesia, and infantile convulsions and choreoathetosis. Recent studies showed that the cause of paroxysmal kinesigenic dyskinesia or infantile convulsions and choreoathetosis could be proline-rich transmembrane protein 2 (PRRT2) gene mutations.
Material and methods: This study analysed PRRT2 gene mutations in 51 families with paroxysmal kinesigenic dyskinesia or infantile convulsions and choreoathetosis by direct sequencing. In particular, we characterize the genotype-phenotype correlation between age at onset and the types of PRRT2 mutations in all published cases.
Results: Direct sequencing showed that 12 out of the 51 families had three different pathogenic mutations (c.649dupC, c.776dupG, c.649C>T) in the PRRT2 gene. No significant difference of age at onset between the patients with and without PRRT2 mutations was found in this cohort of patients. A total of 97 different PRRT2 mutations have been reported in 87 studies till now. The PRRT2 mutation classes are wide, and most mutations are frameshift mutations but the most common mutation remains c.649dupC. Comparisons of the age at onset in paroxysmal kinesigenic dyskinesia or infantile convulsions patients with different types of mutations showed no significant difference.
Conclusions: This study expands the clinical and genetic spectrums of Chinese patients with paroxysmal kinesigenic dyskinesia and infantile convulsions and choreoathetosis. No clear genotype-phenotype correlation between the age at onset and the types of mutations has been determined.
Keywords: PRRT2 gene; Paroxysmal kinesigenic dyskinesia; genotype–phenotype correlation; infantile convulsions and choreoathetosis; mutation.