Identification of potential pathogenic mutations in Chinese children with first branchial cleft anomalies detected by whole-exome sequencing.

ABSTRACT:

Importance

First branchial cleft anomalies (FBCAs) are rare congenital malformations, accounting for < 8% of all branchial cleft anomalies. However, little is currently known about the cause of FBCAs at the molecular level.

Objective

To identify genomic alterations related to the genetic etiology of FBCAs in Chinese children.

Methods

We performed whole-exome sequencing of samples from 10 pediatric patients with FBCAs. Data analysis was carried out using the Burrow-Wheeler Alignment software package, and the dbSNP database for comparisons. Rare variants were further validated by Sanger sequencing. Insertion/deletions (indels) were examined using the Genome Analysis Toolkit.

Results

We identified 14 non-synonymous mutations in seven potential FBCA-susceptibility

SUBMITTER: Yang Y 

PROVIDER: S-EPMC8458719 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature