Somatic and de novo Germline Variants of MEDs in Human Neural Tube Defects.

ABSTRACT:

Background

Neural tube defects (NTDs) are among the most common and severe congenital defects in humans. Their genetic etiology is complex and remains poorly understood. The Mediator complex (MED) plays a vital role in neural tube development in animal models. However, no studies have yet examined the role of its human homolog in the etiology of NTDs.

Methods

In this study, 48 pairs of neural lesion site and umbilical cord tissues from NTD and 21 case-parent trios were involved in screening for NTD-related somatic and germline de novo variants. A series of functional cell assays were performed. We generated a Med12 p.Arg1784Cys knock-in mouse using CRISPR/Cas9 technology to validate the human findings.

Results

One somatic variant, MED12 p.Arg1782C

SUBMITTER: Tian T 

PROVIDER: S-EPMC7969791 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature