Expanding the phenotypic spectrum of GABRG2 variants : a recurrent GABRG2 missense variant associated with a severe phenotype
| Autor: | Zou, Fanggeng, McWalter, Kirsty, Schmidt, Lindsay, Decker, Amy, Picker, Jonathan D, Lincoln, Sharyn, Sweetser, David A, Briere, Lauren C, Harini, Chellamani, Members of the Undiagnosed Diseases Network, Marsh, Eric, Medne, Livija, Wang, Raymond Y, Leydiker, Karen, Mower, Andrew, Visser, Gepke, Cuppen, Inge, van Gassen, Koen L, van der Smagt, Jasper, Yousaf, Adeel, Tennison, Michael, Shanmugham, Anita, Butler, Elizabeth, Richard, Gabriele, McKnight, Dianalee |
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| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
Male
missense Adolescent phenotype Motor Disorders Clinical Sciences Neurodegenerative GABRG2 Severity of Illness Index Speech Disorders Cellular and Molecular Neuroscience Intellectual Disability Receptors Genetics Journal Article Humans 2.1 Biological and endogenous factors Aetiology Child seizures Medicine(all) Movement Disorders Neurology & Neurosurgery Epilepsy Members of the Undiagnosed Diseases Network GABA-A Neurosciences Infant Pedigree Brain Disorders Mutation Muscle Hypotonia Female Abnormalities Multiple |
| Zdroj: | Journal of neurogenetics, vol 31, iss 1-2 |
| Popis: | Pathogenic missense and truncating variants in the GABRG2 gene cause a spectrum of epilepsies, from Dravet syndrome to milder simple febrile seizures. In most cases, pathogenic missense variants in the GABRG2 gene segregate with a febrile seizure phenotype. In this case series, we report a recurrent, de novo missense variant (c0.316 G > A; p.A106T) in the GABRG2 gene that was identified in five unrelated individuals. These patients were described to have a more severe phenotype than previously reported for GABRG2 missense variants. Common features include variable early-onset seizures, significant motor and speech delays, intellectual disability, hypotonia, movement disorder, dysmorphic features and vision/ocular issues. Our report further explores a recurrent pathogenic missense variant within the GABRG2 variant family and broadens the spectrum of associated phenotypes for GABRG2-associated disorders. |
| Databáze: | OpenAIRE |
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