DAC
BCM AJ Leukoencephalopathy
Dac ID | Contact Person | 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 |
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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 |