Global transcriptome dysregulation in second trimester fetuses with FMR1 expansions.

ABSTRACT:

Objective

We tested the hypothesis that FMR1 expansions would result in global gene dysregulation as early as the second trimester of human fetal development.

Method

Using cell-free fetal RNA obtained from amniotic fluid supernatant and expression microarrays, we compared RNA levels in samples from fetuses with premutation or full mutation allele expansions with control samples.

Results

We found clear signals of differential gene expression relating to a variety of cellular functions, including ubiquitination, mitochondrial function, and neuronal/synaptic architecture. Additionally, among the genes showing differential gene expression, we saw links to related diseases of intellectual disability and motor function. Finally, within the unique molecular phenotypes establ

SUBMITTER: Zwemer LM 

PROVIDER: S-EPMC5243172 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature