Characteristic facial features and cortical blindness distinguish the DOCK7-related epileptic encephalopathy.

ABSTRACT:

Background

The epileptic encephalopathies display extensive locus and allelic heterogeneity. Biallelic truncating DOCK7 variants were recently reported in five children with early-onset epilepsy, intellectual disability, and cortical blindness, indicating that DOCK7 deficiency causes a specific type of epileptic encephalopathy.

Methods

We identified 23- and 27-year-old siblings with the clinical pattern reported for DOCK7 deficiency, and conducted genome-wide linkage analysis and WES. The consequences of a DOCK7 variant were analyzed on the transcript and protein level in patients' fibroblasts.

Results

We identified a novel homozygous DOCK7 frameshift variant, an intragenic tandem duplication of 124-kb, previously missed by CGH array, in adult patients. Patients displ

SUBMITTER: Haberlandt E 

PROVIDER: S-EPMC8104163 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature