PRRT2 mutations in paroxysmal kinesigenic dyskinesia with infantile convulsions in a Taiwanese cohort.
<h4>Background</h4>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 investigat...
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oai:doaj.org-article:fef80565e034482fb2fe49444dc5015c2021-11-18T07:10:11ZPRRT2 mutations in paroxysmal kinesigenic dyskinesia with infantile convulsions in a Taiwanese cohort.1932-620310.1371/journal.pone.0038543https://doaj.org/article/fef80565e034482fb2fe49444dc5015c2012-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22870186/?tool=EBIhttps://doaj.org/toc/1932-6203<h4>Background</h4>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.<h4>Methodology and principal findings</h4>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.<h4>Conclusions and significance</h4>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.Yi-Chung LeeMing-Jen LeeHsiang-Yu YuChien ChenChang-Hung HsuKon-Ping LinKwong-Kum LiaoMing-Hong ChangYi-Chu LiaoBing-Wen SoongPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 7, Iss 8, p e38543 (2012) |
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Medicine R Science Q Yi-Chung Lee Ming-Jen Lee Hsiang-Yu Yu Chien Chen Chang-Hung Hsu Kon-Ping Lin Kwong-Kum Liao Ming-Hong Chang Yi-Chu Liao Bing-Wen Soong PRRT2 mutations in paroxysmal kinesigenic dyskinesia with infantile convulsions in a Taiwanese cohort. |
| description |
<h4>Background</h4>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.<h4>Methodology and principal findings</h4>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.<h4>Conclusions and significance</h4>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. |
| format |
article |
| author |
Yi-Chung Lee Ming-Jen Lee Hsiang-Yu Yu Chien Chen Chang-Hung Hsu Kon-Ping Lin Kwong-Kum Liao Ming-Hong Chang Yi-Chu Liao Bing-Wen Soong |
| author_facet |
Yi-Chung Lee Ming-Jen Lee Hsiang-Yu Yu Chien Chen Chang-Hung Hsu Kon-Ping Lin Kwong-Kum Liao Ming-Hong Chang Yi-Chu Liao Bing-Wen Soong |
| author_sort |
Yi-Chung Lee |
| title |
PRRT2 mutations in paroxysmal kinesigenic dyskinesia with infantile convulsions in a Taiwanese cohort. |
| title_short |
PRRT2 mutations in paroxysmal kinesigenic dyskinesia with infantile convulsions in a Taiwanese cohort. |
| title_full |
PRRT2 mutations in paroxysmal kinesigenic dyskinesia with infantile convulsions in a Taiwanese cohort. |
| title_fullStr |
PRRT2 mutations in paroxysmal kinesigenic dyskinesia with infantile convulsions in a Taiwanese cohort. |
| title_full_unstemmed |
PRRT2 mutations in paroxysmal kinesigenic dyskinesia with infantile convulsions in a Taiwanese cohort. |
| title_sort |
prrt2 mutations in paroxysmal kinesigenic dyskinesia with infantile convulsions in a taiwanese cohort. |
| publisher |
Public Library of Science (PLoS) |
| publishDate |
2012 |
| url |
https://doaj.org/article/fef80565e034482fb2fe49444dc5015c |
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