A Novel PRRT2 Variant in Chinese Patients Suffering from Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsion

الملخص EN

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.