A maternal GOT1 novel variant associated with early-onset severe preeclampsia identified by whole-exome sequencing.

ABSTRACT: BACKGROUND:This study wants to know the genetic cause of preeclampsia (PE) which is a leading cause of maternal and perinatal death, but the underlying molecular mechanisms that cause PE remain poorly understood. Many single nucleotide polymorphisms have been identified by genome-wide association studies and were found to be associated with PE; however, few studies have used whole-exome sequencing (WES) to identify PE variants. METHODS:Five patients with severe early-onset preeclampsia (EOPE) were recruited, and WES was performed on each patient. Sanger sequencing was used to confirm the potential causative genetic variant. RESULTS:After a stringent bioinformatics analysis, a rare variant in the GOT1 gene, c.44C > G:p.P15R, was found in one patient. Bioinformatics analysis showed that the

SUBMITTER: Zhang L 

PROVIDER: S-EPMC7060644 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature