Targeted gene under study
CARS2 ( #616672)
Abstract
CARS2 (OMIM #616672) has been previously linked to the neurodegenerative disorder characterized by the mitochondrial respiratory chain deficiency with epileptic encephalopathy and complex movement disorder. We have collected/identified 11 (4 previously reported and 7 new) affected individuals with biallelic pathogenic variants in the CARS2 gene, presented with neurodevelopmental disorder with juvenile-onset epileptic encephalopathy, movement disorder such as chorea, dystonia or generalized tremor and brain/skeletal malformations in some cases. We are interested in families with biallelic ultra-rare variants in CARS2. To enable deep genotype-phenotype correlations, we are collecting detailed clinical data, brain MRI images and videos of the patients to be evaluated by movement disorders specialists as well as genetic data with segregation analysis and skin biopsies if possible for further functional studies
Coordinating clinicians/researchers
Dr. Reza Maroofian – r.maroofian@ucl.ac.uk
Dr. Miriama Ostrozovicova – m.ostrozovicova@ucl.ac.uk
Institution
Institute of Neurology, University College London, London, UK
Specific requirements beyond clinical data and genotype data sharing:
- Re-analysis of DNA samples: No
- Resampling of patients: No
- Linked to a translational/basic research project: No