Novel and de novo point and large microdeletion mutation in PRRT2‐related epilepsy
| Autor: | Fang Luo, Dongqing Zhang, Na Xu, Yufen Li, Junli Yang, Liyun Xu, Xia Li, Li Yang, Cuiping You, Feng Liu, Yue Niu, Xiaofan Yang, Baomin Li, Shiyan Qiu |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
Male
DNA Copy Number Variations Nerve Tissue Proteins 16p11.2 deletion 050105 experimental psychology lcsh:RC321-571 03 medical and health sciences Behavioral Neuroscience Epilepsy 0302 clinical medicine Febrile seizure medicine Humans 0501 psychology and cognitive sciences Child lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry Exome sequencing Original Research Genetics Benign familial infantile epilepsy business.industry Point mutation 05 social sciences Membrane Proteins medicine.disease Epilepsy Benign Neonatal Pedigree Child Preschool Mutation Myoclonic epilepsy epilepsy myoclonic seizures Female PRRT2 business 030217 neurology & neurosurgery Benign infantile epilepsy copy number variants |
| Zdroj: | Brain and Behavior, Vol 10, Iss 5, Pp n/a-n/a (2020) Brain and Behavior |
| ISSN: | 2162-3279 |
| Popis: | 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. 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 mutation mostly de novo. Our report expands the mutation and clinical spectrum of PRRT2‐related epilepsy. |
| Databáze: | OpenAIRE |
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