Whole exome sequencing identifies novel predisposing genes in neural tube defects.

ABSTRACT:

Background

Neural tube defects (NTD) are among the most common defects affecting 1:1000 births. They are caused by a failure of neural tube closure during development. Their clinical presentation is diverse and dependent on the site and severity of the original defect on the embryonic axis. The etiology of NTD is multifactorial involving environmental factors and genetic variants that remain largely unknown.

Methods

We have conducted a whole exome sequencing (WES) study in five new NTD families and pooled the results with WES data from three NTD families and 43 trios that were previously investigated by our group. We analyzed the data using biased candidate gene and unbiased gene burden approaches.

Results

We identified four novel loss-of-function variants in three ge

SUBMITTER: Lemay P 

PROVIDER: S-EPMC6382446 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature