Closed
Targeted gene under study
NOTCH3 (OMIM 600276), homozygous/biallelic variants
Abstract
NOTHC3 monoallelic variants are well known due to Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). However, rare cases carrying biallelic variants in this gene have been described. Here we aim to delineate clinical, neuroimaging and genetic spectrum of biallelic NOTCH3 patients. We are interested in patients with loss of function or missense biallelic variants (both homozygous and compound heterozygous). We will need clinical features, geneticla data and neuroimaging images.
Coordinating clinicians/researchers
Pablo Iruzubieta – pablo.iruzubieta@hotmail.es
Reza Maroofian
Institution
Queen Square, Institute of Neurology, UCL London
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