COL4A1-related autosomal recessive encephalopathy in 2 Turkish children.

ABSTRACT:

Objective

This study presents the neurologic phenotypes of 2 brothers with a novel homozygous COL4A1 mutation that was identified in a large Turkish consanguineous cohort of neurogenetic diseases.

Methods

Whole-exome sequencing and bioinformatic analysis of consanguineous families with children affected by early-onset, neurogenetic disorders was performed using the RD-Connect Genome-Phenome Analysis Platform. We also performed clinical, EEG, and neuroimaging analyses in unaffected siblings and parents.

Results

We have identified a homozygous missense mutation in COL4A1 (p.Gly1278Ser, NM_001845.5:c.3832G>T) in 2 siblings affected by small vessel brain disease with periventricular leukoencephalopathy and ocular defects. Presenting symptoms included mild we

SUBMITTER: Yaramis A 

PROVIDER: S-EPMC6975172 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature