Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype
| Autor: | Jonathan Picker, Amy Decker, Gepke Visser, Adeel Yousaf, Raymond Y. Wang, Eric D. Marsh, David A. Sweetser, Andrew Mower, Sharyn A. Lincoln, Elizabeth Butler, Gabriele Richard, Lindsay Schmidt, Koen L.I. van Gassen, Lauren C. Briere, Anita Shanmugham, Michael B. Tennison, Jasper J. van der Smagt, Inge Cuppen, Fanggeng Zou, Karen Leydiker, Dianalee McKnight, Kirsty McWalter, Chellamani Harini, Livija Medne |
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| Rok vydání: | 2017 |
| Předmět: |
Male
0301 basic medicine missense Adolescent phenotype Motor Disorders Mutation Missense GABRG2 Severity of Illness Index Article Speech Disorders 03 medical and health sciences Cellular and Molecular Neuroscience Epilepsy 0302 clinical medicine Dravet syndrome Intellectual Disability Febrile seizure Intellectual disability Journal Article Genetics medicine Humans Missense mutation Abnormalities Multiple Child seizures Medicine(all) Movement Disorders biology business.industry Infant Receptors GABA-A medicine.disease Phenotype Hypotonia Pedigree 030104 developmental biology biology.protein Muscle Hypotonia Female medicine.symptom business 030217 neurology & neurosurgery |
| Zdroj: | Journal of Neurogenetics, 31(1-2), 30. Informa Healthcare |
| ISSN: | 1563-5260 0167-7063 |
| 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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