Targeted gene under study
OMIM # 616352
Abstract
We have identified 43 individuals from 27 independent families around the world with biallelic predominantly loss-of-function variants in the ACBD6 gene. Patients uniformly present with a neurodevelopmental syndrome with progressive complex movement disorders. This is a novel gene-disease association for which we have extensive functional analysis data including model organisms and proteomics. We are interested in families with biallelic ultra-rare variants in ACBD6. We would like to receive detailed clinical data, brain MRI images, video of the patients for a deeper phenotyping by movement disorders specialists, genetic data with segregation analysis, and skin biopsies for functional studies.
Coordinating clinicians/researchers
Dr. Reza Maroofian – r.maroofian@ucl.ac.uk
Dr. Rauan Kaiyrzhanov – rauan.kaiyrzhanov.14@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