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A Novel PRRT2 Variant in Chinese Patients Suffering from Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsion
Salem Baldi1, Jin-Ling Zhu1, Qing-Yun Hu2
1Department of Biology, School of Basic Medicine, Jiamusi University, Jiamusi City, Heilongjiang Province, 154007, China.
Abstract:
PRRT2 mutations are the major causative agent of paroxysmal kinesigenic dyskinesia with infantile convulsion (PKD/IC). The study is aimed at screening PRRT2 gene mutations in patients who suffered from PKD/IC in Chinese population. Thirteen Chinese patients with PKD/IC were screened randomly for coding exons of the PRRT2 gene mutation along with 50 ethnically coordinated control people. Nine (2 unaffected) and 4 of the patients showed familial PKD/IC and apparently sporadic cases, respectively. We identified 5 different PRRT2 mutations in 10 individuals, including 8 familial and 2 apparently sporadic cases. However, no mutations were found in the 50 ethnically matched controls. Unknown (novel) NM_145239.2:c.686G>A and previously reported NM_145239.2:c.743G>C variants were identified in two familial and sporadic patients. All affected members of family A showed mutation NM_145239.2:c.650_670delinsCAATGGTGCCACCACTGGGTTA. The previously identified NM_145239.2:c.412 C>G and NM_145239.2:c.709G>A variants are seen in two individuals assessed in family B. Other than the previously identified variants, some of the patients with PRRT2-PKD/IC showed a new PRRT2 substitution variant. Thus, the spectrum of PRRT2 variants is expanded. The possible role and probability of PRRT2 variants involved in PKD/IC are highlighted.
Insights
PRRT2 gene mutations are linked to paroxysmal kinesigenic dyskinesia with infantile convulsion (PKD/IC). This study identified five PRRT2 mutations in Chinese patients, expanding the known spectrum of variants associated with PKD/IC.
Area of Science:
- Genetics
- Neurology
- Molecular Biology
Background:
- Mutations in the PRRT2 gene are the primary cause of paroxysmal kinesigenic dyskinesia with infantile convulsion (PKD/IC).
- Understanding the genetic basis of PKD/IC is crucial for diagnosis and potential therapeutic strategies.
Purpose of the Study:
- To screen for PRRT2 gene mutations in a Chinese population diagnosed with PKD/IC.
- To identify novel and previously reported PRRT2 variants associated with PKD/IC in this cohort.
Main Methods:
- Genetic screening of the PRRT2 gene's coding exons was performed on 13 Chinese patients with PKD/IC.
- A control group of 50 ethnically matched individuals was included for comparison.
- Mutation analysis was conducted on familial and apparently sporadic cases.
Main Results:
- Five distinct PRRT2 mutations were identified in 10 out of 13 patients (8 familial, 2 sporadic cases).
- No PRRT2 mutations were found in the 50 control individuals.
- Novel (NM_145239.2:c.686G>A) and known variants (e.g., NM_145239.2:c.743G>C, NM_145239.2:c.650_670delinsCAATGGTGCCACCACTGGGTTA, NM_145239.2:c.412 C>G, NM_145239.2:c.709G>A) were identified, expanding the spectrum of PRRT2 variants in PKD/IC.
Conclusions:
- PRRT2 mutations are prevalent in Chinese patients with PKD/IC.
- The study expands the known spectrum of PRRT2 variants associated with PKD/IC.
- Genetic testing for PRRT2 mutations is valuable for diagnosing PKD/IC.
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