Lee Y.-C.MING-JEN LEEYu H.-Y.Chen C.Hsu C.-H.Lin K.-P.Liao K.-K.Chang M.-H.Liao Y.-C.Soong B.-W.2020-11-032020-11-0320121932-6203https://www.scopus.com/inward/record.uri?eid=2-s2.0-84864762353&doi=10.1371%2fjournal.pone.0038543&partnerID=40&md5=dba8481cba325eeceff2a74fb0144aa3https://scholars.lib.ntu.edu.tw/handle/123456789/519557Background: Mutations in the PRRT2 gene have recently been identified in patients with familial paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) and patients with sporadic PKD/IC from several ethnic groups. To extend these recent genetic reports, we investigated the frequency and identities of PRRT2 mutations in a cohort of Taiwanese patients with PKD/IC. Methodology and Principal Findings: We screened all 3 coding exons of PRRT2 for mutations in 28 Taiwanese patients with PKD/IC. Among them, 13 had familial PKD/IC and 15 were apparently sporadic cases. In total, 7 disparate mutations were identified in 13 patients, including 8 familial cases and 5 apparently sporadic cases. The mutations were not present in 500 healthy controls. Four mutations were novel. One patient had a missense mutation and all other patients carried PRRT2 mutations putatively resulting in a protein truncation. Haplotype analysis revealed that 5 of the 7 patients with the PRRT2 p.R217Pfs*8 mutation shared the same haplotype linked to the mutation. Conclusions and Significance: PRRT2 mutations account for 61.5% (8 out of 13) of familial PKD/IC and 33.3% (5 out of 15) of apparently sporadic PKD/IC in the Taiwanese cohort. Most patients with the PRRT2 p.R217Pfs*8 mutation in Taiwan likely descend from a single common ancestor. This study expands the spectrum of PKD/IC-associated PRRT2 mutations, highlights the pathogenic role of PRRT2 mutations in PKD/IC, and suggests genetic heterogeneity within idiopathic PKD. ? 2012 Lee et al.[SDGs]SDG3adult; article; clinical article; cohort analysis; controlled study; convulsion; dyskinesia; ethnic group; exon; female; frameshift mutation; gene; gene frequency; gene identification; genetic linkage; genetic screening; haplotype; human; infantile convulsion; laboratory test; male; missense mutation; nonsense mutation; nucleotide sequence; paroxysmal kinesigenic dyskinesia; protein truncation; PRRT2 gene; Taiwan; Taiwanese; Adolescent; Adult; Asian Continental Ancestry Group; Child; Chorea; Cohort Studies; Female; Humans; Male; Membrane Proteins; Mutation, Missense; Nerve Tissue Proteins; Seizures; Taiwanjournal article10.1371/journal.pone.0038543228701862-s2.0-84864762353