GNAO1-associated epileptic encephalopathy and movement disorders: c.607G>A variant represents a probable mutation hotspot with a distinct phenotype
| Autor: | Christine G. Spaeth, Ravindra Arya, Katherine D. Holland, Donald L. Gilbert, James L. Leach |
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| Rok vydání: | 2017 |
| Předmět: |
Male
0301 basic medicine Pathology medicine.medical_specialty Movement disorders Developmental Disabilities GTP-Binding Protein alpha Subunits Gi-Go Biology GNAO1 03 medical and health sciences Epilepsy 0302 clinical medicine Chorea Seizures medicine Humans Global developmental delay Genetic testing Cerebral atrophy Genetics medicine.diagnostic_test General Medicine medicine.disease Phenotype 030104 developmental biology Neurology Child Preschool Mutation Neurology (clinical) Atrophy medicine.symptom 030217 neurology & neurosurgery |
| Zdroj: | Epileptic Disorders. 19:67-75 |
| ISSN: | 1950-6945 1294-9361 |
| DOI: | 10.1684/epd.2017.0888 |
| Popis: | We describe a case of GNAO1-associated epilepsy and chorea in a patient with a de novo pathogenic mutation. This patient is unique in being the first reported male with this phenotype, and we propose that this genetic variant may represent a mutation hotspot that characterizes a unique phenotype. This 5.2-years-old boy presented with seizures, chorea, and severe global developmental delay. Brain imaging showed progressive diffuse cerebral atrophy. EEG monitoring revealed multifocal and diffuse discharges, along with generalized-onset seizures. Genetic testing found a de novo pathogenic variant in the GNAO1 gene (c.607G>A; p.Gly203Arg). A review of the literature showed two other patients with similar phenotype and the same genetic variant. In contrast, other patients with neurological involvement had private mutations in the GNAO1 gene. The neurological phenotypes associated with GNAO1 mutations appear to lie on a spectrum, and it is possible that the c.607G>A (p.Gly203Arg) variant characterizes a phenotype with both severe epilepsy and chorea. [Published with video sequence on www.epilepticdisorders.com]. |
| Databáze: | OpenAIRE |
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