Global transcriptome dysregulation in second trimester fetuses with FMR1 expansions

Using cell-free fetal RNA from amniotic fluid supernatant samples, the gene expression profiles of fetuses with varying FMR1 5’ UTR CGG repeat lengths were compared to gestational age- and sex-matched controls. Broad patterns of genome-wide expression changes were identified when comparing fetuses with expanded FMR1 alleles to those with normal length FMR1 alleles. Genes with altered expression include those related to ubiquitination, mitochondrial function and neuronal/synaptic architecture as well as genes previously linked to other intellectual disabilities and abnormalities of motor function. Whole-transcriptome expression microarray study using cell-free fetal RNA from the amniotic fluid supernatant to compare gene expression in fetuses with expanded FMR1 alleles (12 males with a premutation, six females with a premutation, and two males and two females with a full-mutation) to gestational age- and sex-matched control samples from fetuses with normal length FMR1 alleles.