Genetic screening and functional analysis of CASP9 mutations in a Chinese cohort with neural tube defects.

ABSTRACT:

Aim

Neural tube defects (NTDs) are birth defects of the nervous system and are the second most frequent cause of birth defects worldwide. The etiology of NTDs is complicated and involves both genetic and environmental factors. CASP9 is an initiator caspase in the intrinsic apoptosis pathway, which in Casp9^-/- mice has been shown to result in NTDs because of decreased apoptosis. The aim of this study was to evaluate the potential genetic contribution of the CASP9 gene in human NTDs.

Methods

High-throughput sequencing was performed to screen genetic variants of CASP9 genes in 355 NTD cases and 225 matched controls. Apoptosis-relevant assays were performed on transiently transfected E9 neuroepithelial cells or human embryonic kidney 293T cells, to determine the funct

SUBMITTER: Liu XZ 

PROVIDER: S-EPMC6489964 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature