Whole-exome sequencing analysis to identify novel potential pathogenetic mutations in fetuses with abnormal brain structure.

ABSTRACT:

Background

Genetic mutations in genes related to the production, migration, or differentiation of cortical neurons can result in malformations of cortical development (MCDs). However, a large number of MCD-related pathogenetic mutations remain unknown. This study aimed to investigate the genetic cause of MCDs and to identify the new MCD-associated mutations through whole-exome sequencing (WES) in fetuses with abnormal brain structure.

Methods

Cord venous blood samples were collected from 11 fetuses with MCDs. Whole-genome DNA was extracted from the blood, and WES was performed. Single nucleotide substitutions, insertions, and deletions were detected by bioinformatics analysis. Genetic mutations in genes associated with MCD were identified.

Results

A total of 1035 gene

SUBMITTER: Shi L 

PROVIDER: S-EPMC8246198 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature