Targeted gene under study:
OMIM #618721
Abstract
Inborn deficiency of GOT2 (OMIM: 618721) due to biallelic missense variants was first reported in 2019 by van Karnebeek et al. in four children from three different families. These patients presented with early-onset developmental epileptic encephalopathy (DEE), accompanied by intellectual and motor delays. However, the clinical and genetic spectrum of this ultra-rare disorder remains largely uncharacterized.
To address this, we have been collecting clinical and genetic data from families affected by GOT2-related neurodevelopmental disorders with epilepsy. Additionally, we performed biochemical analyses on fibroblast cells and dried blood spot samples derived from the patients. We are currently preparing a manuscript reporting our findings from five new families, and it would be great to identify additional families to include before our first submission or during revision.
Coordinating team
Reza Maroofian – R.maroofian@ucl.ac.uk
Hannah M. German – H.M.German@umcutrecht.nl
Institutions
UCL Queen Square Institute of Neurology- department of neuromuscular disease
Section Metabolic Diagnostics, Department of Genetics, University Medical Centre Utrecht, Utrecht University, 3584 EA Utrecht, the Netherlands
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: Yes – Dried blood spots if this is possible
3- Linked to a translational/basic research project: Yes