Mutations in the Motile Cilia Gene DNAAF1 Are Associated with Neural Tube Defects in Humans.

ABSTRACT: Neural tube defects (NTDs) are severe malformations of the central nervous system caused by complex genetic and environmental factors. Among genes involved in NTD, cilia-related genes have been well defined and found to be essential for the completion of neural tube closure (NTC). We have carried out next-generation sequencing on target genes in 373 NTDs and 222 healthy controls, and discovered eight disease-specific rare mutations in cilia-related gene DNAAF1 DNAAF1 plays a central role in cytoplasmic preassembly of distinct dynein-arm complexes, and is expressed in some key tissues involved in neural system development, such as neural tube, floor plate, embryonic node, and brain ependyma epithelial cells in zebrafish and mouse. Therefore, we evaluated the expression and functions of muta

SUBMITTER: Miao C 

PROVIDER: S-EPMC5068950 | biostudies-literature | 2016 Oct

REPOSITORIES: biostudies-literature