Expanded Phenotypic Definition Identifies Hundreds of Potential Causative Genes for Leukodystrophies and Leukoencephalopathies.

ABSTRACT:

Background

The genes responsible for genetic white matter disorders (GWMD; leukodystrophies and leukoencephalopathies) are incompletely known. Our goal was to revise the list of genes considered to cause GWMD. We considered a GWMD to consist of any genetic disease causing T2 signal white matter changes in magnetic resonance images.

Methods and results

Using a systematic review of PubMed, Google, published literature reviews, and commercial gene panels, we identified 399 unique genes meeting the GWMD definition. Of this, 87 (22%) genes were hypomyelinating. Only 3 genes had contrast enhancement on magnetic resonance imaging (MRI): ABCD1, GFAP, and UNC13D.

Conclusions

A significantly greater number of genes than previously recognized, 399, are assoc

SUBMITTER: Urbik VM 

PROVIDER: S-EPMC7359642 | biostudies-literature | 2020 Jan-Dec

REPOSITORIES: biostudies-literature