Association between rare variants in specific functional pathways and human neural tube defects multiple subphenotypes.

ABSTRACT:

Background

Neural tube defects (NTDs) are failure of neural tube closure, which includes multiple central nervous system phenotypes. More than 300 mouse mutant strains exhibits NTDs phenotypes and give us some clues to establish association between biological functions and subphenotypes. However, the knowledge about association in human remains still very poor.

Methods

High throughput targeted genome DNA sequencing were performed on 280 neural tube closure-related genes in 355 NTDs cases and 225 ethnicity matched controls, RESULTS: We explored that potential damaging rare variants in genes functioning in chromatin modification, apoptosis, retinoid metabolism and lipid metabolism are associated with human NTDs. Importantly, our data indicate that except for planar cell polari

SUBMITTER: Zou J 

PROVIDER: S-EPMC7353782 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature