Identification of a novel heterozygous missense mutation of SEMA3E (c.1327G>A; p. Ala443Thr) in a labor induced fetus with CHARGE syndrome.

ABSTRACT:

Background

CHARGE syndrome is a complex multisystem genetic disease. We aimed to find the potential gene mutation in the labor induced fetus with CHARGE syndrome.

Methods

Genomic DNA was extracted from the fetal thigh muscle tissue and the peripheral blood of his parents. The resulting exomes were sequenced using whole exome sequencing (WES) followed by the selection of the candidate causative mutation genes. The deleteriousness of the identified variants was predicted. Analysis of multiple alignment of protein sequences and protein conserved domains was performed by online software. Finally, Sanger sequencing was applied for validation of the identified variants in the WES.

Results

After sequencing and bioinformatics filtering, a heterozygous missense mutation of SEM

SUBMITTER: Song X 

PROVIDER: S-EPMC6978240 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature