BCM AJ Leukoencephalopathy

Dac ID Contact Person Email Access Information
EGAC00001000458 Hui Mei hui [dot] mei [at] bcm [dot] edu No additional information is available

This DAC controls 1 dataset:

Dataset ID Description Technology Samples
EGAD00001002005 Using whole exome sequencing (WES), we identified homozygosity for a missense variant, VPS11: c.2536T>G (p.C846G), as the genetic cause of a leukoencephalopathy syndrome in two individuals from two unrelated Ashkenazi Jewish (AJ) families. Both patients exhibited highly concordant disease progression characterized by infantile onset leukoencephalopathy with brain white matter abnormalities, severe motor impairment, cortical blindness, intellectual disability, and seizures. 2