Identification of two novel PRRT2 gene variants in two children with paroxysmal kinesigenic dyskinesia / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To analyze variants of PRRT2 gene in two children with paroxysmal kinesigenic dyskinesia.@*METHODS@#Genomic DNA of the two children and their parents was extracted from peripheral venous blood samples. All exons and their flanking regions of the PRRT2 gene were subjected to PCR and Sanger sequencing.@*RESULTS@#The two children were found to respectively harbor a c.282dupA and a c.715_716dupCC variant in exon 2 of the PRRT2 gene, which were both inherited from their mothers. Pooling together their frequencies in general population, genetic models, related literature and impact on protein function, the two novel variants were both predicted to be pathogenic.@*CONCLUSION@#The c.282dupA and c.715_716dupCC variants probably underlie the disease in the two children.