Whole exome sequencing identifies multiple novel candidate genes in familial gastroschisis.

ABSTRACT:

Background

Genetic association studies for gastroschisis have highlighted several candidate variants. However, genetic basis in gastroschisis from noninvestigated heritable factors could provide new insights into the human biology for this birth defect. We aim to identify novel gastroschisis susceptibility variants by employing whole exome sequencing (WES) in a Mexican family with recurrence of gastroschisis.

Methods

We employed WES in two affected half-sisters with gastroschisis, mother, and father of the proband. Additionally, functional bioinformatics analysis was based on SVS-PhoRank and Ensembl-Variant Effect Predictor. The latter assessed the potentially deleterious effects (high, moderate, low, or modifier impact) from exome variants based on SIFT, PolyPhen, dbNSFP, C

SUBMITTER: Salinas-Torres VM 

PROVIDER: S-EPMC7216806 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature