Expanding the phenotypic spectrum ofGABRG2variants: a recurrentGABRG2missense variant associated with a severe phenotype
Year: 2017
Type: article
Study design: Case Report
Abstract: 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.
Source: Journal of Neurogenetics
Authors: Fanggeng Zou, Kirsty McWalter, Lindsay Schmidt, Amy Decker, Jonathan D. Picker, Sharyn Lincoln, David A. Sweetser, Lauren C. Briere, Chellamani Harini, Members of the Undiagnosed Diseases Network, Eric Marsh, Livija Medne, Raymond Y. Wang, Karen Leydiker, Andrew Mower, Gepke Visser, Inge Cuppen, Koen L. van Gassen, Jasper van der Smagt, Adeel Yousaf, Michael Tennison, Anita Shanmugham, Elizabeth Butler, Gabriele Richard, Dianalee McKnight
Institutions: Boston Children's Hospital, National Institutes of Health, NIH Common Fund, Massachusetts General Hospital, Children's Hospital of Philadelphia, Children's Hospital of Orange County, University Medical Center Utrecht, Wilhelmina Children's Hospital, University of North Carolina at Chapel Hill
Language: English
Subfield: Psychiatry and Mental health
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W2611062161