Gene/phenotype/disorder of interest
YY1 (OMIM *600013); Gabriele-de Vries syndrome (OMIM #617557): neurodevelopmental and movement disorder spectrum.
Abstract
We invite collaboration to define the movement disorder spectrum and natural history of YY1-related disease (Gabriele-de Vries syndrome). Our emerging series includes adult-onset dystonia in individuals with mild developmental or learning difficulties, alongside neurodevelopmental presentations with ataxia. We seek children and adults with pathogenic or likely pathogenic YY1 variants, with or without movement disorders. Cases with dystonia, ataxia, tremor or parkinsonism are of particular interest, including adults whose developmental difficulties were subtle or previously unrecognised. We aim to collate genotype, developmental history, age at neurological onset, examination findings, disease course and treatment responses. Patients without movement disorders are also valuable for understanding the broader phenotype and age-related manifestations.
Coordinating clinicians
- Shilpan G Patel; shilpan.patel1@nhs.net
Institution
University College London, Queen Square, United Kingdom
Specific requirements beyond clinical data and genotype data sharing
- Re-analysis of DNA samples: N
- Resampling of patients: N
- Linked to a translational/basic research project? N