Gene/phenotype/disorder under study
Gene ECHS1 (OMIM *616277)
Abstract
Biallelic variants in ECHS1 have been linked to Leigh syndrome and other severe mitochondrial phenotypes. However, milder phenotypes, including paroxysmal movement disorders, have also been reported and may be under-recognized.
We are currently collecting clinical and genetic data on patients carrying bi-allelic ECHS1 variants classified as pathogenic, likely pathogenic or of uncertain clinical significance, with a particular interest on presentations including movement disorders – especially paroxysmal movement disorders. Our aim is to better characterize ECHS1-related disorder through deep phenotyping and natural history studies within an international cohort.
This collaborative effort will contribute to a more comprehensive understanding of the phenotypic spectrum associated with ECHS1-related movement disorder.
Coordinating clinician
Dr Francesca Magrinelli – f.magrinelli@ucl.ac.uk
Institution
Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: Y (Not mandatory)
2- Resampling of patients: Y (Not mandatory)
3- Linked to a translational/basic research project: No