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Novel and de novo point and large microdeletion mutation in PRRT2-related epilepsy
Li Yang1,2, Cuiping You3, Shiyan Qiu2
1Department of Pediatrics, Qilu Hospital of Shandong University, Jinan, China.
Insights
Point mutations and copy number variants in the PRRT2 gene are linked to childhood epilepsy. This study identified PRRT2 mutations in Chinese children, expanding the known spectrum of related epilepsy syndromes and genetic variations.
Area of Science:
- Genetics
- Neurology
- Pediatrics
Background:
- Point and copy number variant mutations in the *PRRT2* gene are associated with paroxysmal disorders and epilepsy.
- Understanding the spectrum of *PRRT2*-related mutations and their clinical manifestations in diverse populations is crucial.
Purpose of the Study:
- To analyze the phenotypes and *PRRT2*-related mutations in Chinese children diagnosed with epilepsy.
- To expand the understanding of *PRRT2* mutation spectrum and associated epilepsy types.
Main Methods:
- Whole exome sequencing (WES) and low-coverage massively parallel CNV sequencing (CNV-seq) were performed on 492 children with epilepsy.
- Quantitative polymerase chain reaction (qPCR) was used to verify copy number variations (CNVs).
- Clinical information and follow-up data were collected for all analyzed patients.
Main Results:
- *PRRT2*-related mutations were identified in 19 pediatric epilepsy patients (10 males, 9 females).
- Detected mutations included 12 point mutations, 4 whole gene deletions, and 3 deletions in the 16p11.2 region.
- Clinical phenotypes encompassed early childhood myoclonic epilepsy (ECME), febrile seizures (FS), infantile convulsions with paroxysmal choreoathetosis (ICCA), paroxysmal kinesigenic dyskinesias (PKD), benign infantile epilepsy (BIE), and benign familial infantile epilepsy (BFIE).
- Most patients responded well to valproic acid (VPA) or oxcarbazepine (OXC).
Conclusions:
- *PRRT2* mutations, primarily inherited, contribute to a spectrum of epilepsy syndromes including BIE, BFIE, ICCA, PKD, FS, and ECME.
- The study reports the first instance of *PRRT2* mutation associated with ECME.
- *PRRT2*-related mutations encompass point mutations, whole gene deletions, and large microdeletions, broadening the known genetic and clinical landscape of *PRRT2*-associated epilepsy.
Background:
Point and copy number variant mutations in the PRRT2 gene have been identified in a variety of paroxysmal disorders and different types of epilepsy. In this study, we analyzed the phenotypes and PRRT2-related mutations in Chinese epilepsy children.
Methods:
A total of 492 children with epilepsy were analyzed by whole exome sequencing (WES) and low-coverage massively parallel CNV sequencing (CNV-seq) to find the single nucleotide variants and copy number variations (CNVs). And quantitative polymerase chain reaction was utilized to verify the CNVs. Their clinical information was followed up.
Results:
We found PRRT2-related mutations in 19 patients (10 males and nine females, six sporadic cases and 13 family cases). Twelve point mutations, four whole gene deletion, and three 16p11.2 deletions were detected. The clinical features of 39 patients in 19 families included one early childhood myoclonic epilepsy (ECME), one febrile seizure (FS), two infantile convulsions with paroxysmal choreoathetosis (ICCA), six paroxysmal kinesigenic dyskinesias (PKD), 12 benign infantile epilepsy (BIE), and 17 benign familial infantile epilepsy (BFIE). All patients had normal brain MRI. Interictal EEG showed only one patient had generalized polyspike wave and five patients had focal transient discharges. Focal seizures originating in the frontal region were recorded in one patient, two from the temporal region, and two from the occipital region. Most patients were treated effectively with VPA or OXC, and the child with myoclonic seizures was not sensitive to antiepileptic drugs.
Conclusion:
PRRT2 mutations can be inherited or de novo, mainly inherited. The clinical spectrum of PRRT2 mutation includes BIE, BFIE, ICCA, PKD, FS, and ECME. The PRRT2-related mutations contained point mutation, whole gene deletion and 16p11.2 deletions, and large microdeletion mutations mostly de novo. It is the first report of PRRT2 mutation found in ECME. Our report expands the mutation and clinical spectrum of PRRT2-related epilepsy.
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