PRRT2 mutation screening in patients with paroxysmal kinesigenic dyskinesia from Southwest China
1Department of Neurology, State Key Laboratory of Biotherapy and Cancer Center, West China Hospital, SiChuan University, Chengdu, China.
Background And Purpose:
Proline-rich transmembrane protein 2 (PRRT2) has recently been identified as a causative gene of paroxysmal kinesigenic dyskinesia (PKD). However, the frequencies of its mutations and their correlation with the clinical features of PKD remain largely unknown.
Methods:
Four exons of PRRT2 in 33 patients with PKD from Southwest China were screened by direct sequencing in this study.
Results:
The mean onset age of the patients was 12.50 ± 2.70 years. Sixteen patients (48.48%) had sensory aura before their attacks. In total, 66.67% of the patients were running when the attacks occurred. c.649_650insC (p.P217fsX7), the most commonly reported insertion mutation, was identified in nine patients (27.27%).
Conclusions:
Other genes are involved in the development of PKD, but PRRT2 is a common causative gene for patients with PKD from Southwest China.
Insights
Proline-rich transmembrane protein 2 (PRRT2) mutations are common in Southwest Chinese patients with paroxysmal kinesigenic dyskinesia (PKD). This study identified specific mutation frequencies and clinical correlations in PKD.
Area of Science:
- Genetics
- Neurology
- Molecular Biology
Background:
- Proline-rich transmembrane protein 2 (PRRT2) is a recently identified gene linked to paroxysmal kinesigenic dyskinesia (PKD).
- The prevalence of PRRT2 mutations and their association with clinical symptoms in PKD patients require further investigation.
Purpose of the Study:
- To determine the frequency of PRRT2 mutations in patients with paroxysmal kinesigenic dyskinesia (PKD) from Southwest China.
- To explore the correlation between PRRT2 mutations and the clinical characteristics of PKD in this population.
Main Methods:
- Direct sequencing was employed to screen four exons of the PRRT2 gene.
- The study included 33 patients diagnosed with paroxysmal kinesigenic dyskinesia (PKD) from Southwest China.
Main Results:
- The mean age of onset for PKD patients was 12.50 ± 2.70 years.
- Sensory aura preceded attacks in 48.48% of patients, and 66.67% experienced attacks while running.
- The insertion mutation c.649_650insC (p.P217fsX7) was found in 27.27% of patients, representing the most common mutation identified.
Conclusions:
- PRRT2 is a significant causative gene for paroxysmal kinesigenic dyskinesia (PKD) in the Southwest Chinese population.
- While PRRT2 is a common cause, other genes likely contribute to the development of PKD.
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