Ena-DATASET-BCM-AJ-08-04-2016-14:19:00:399-129 - samples

ABSTRACT: 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.

PROVIDER: EGAD00001002005 | EGA |

REPOSITORIES: EGA