Targeted gene under study:
OMIM # 615768
Abstract
We are investigating the full clinical spectrum of STUB1-related disorders, ranging from autosomal recessive cerebellar ataxia (SCAR16) with developmental delay to the newly recognized severe presentation as a recessive neurodevelopmental syndrome. While STUB1 variants are primarily linked to cerebellar ataxia, we aim to further define the severe end of this spectrum, which involves developmental delay, cognitive impairment, and motor dysfunction. We present cases of 10 affected individuals from seven consanguineous families and are actively seeking to recruit more families to deepen our understanding of this rare and complex phenotype. Please contact us if you are interested in contributing to this study.
Coordinating team
Reza Maroofian – r.maroofian@ucl.ac.uk
Institution
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: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: No