Dataset Information

Global transcriptome dysregulation in second trimester fetuses with FMR1 expansions.

ABSTRACT: We tested the hypothesis that FMR1 expansions would result in global gene dysregulation as early as the second trimester of human fetal development.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.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 established for each mutation set, we saw clear signatures of mitochondrial dysfunction and disrupted neurological function. Patterns of differential gene expression were very different in male and female fetuses with premutation alleles.These results support a model for which genetic misregulation during fetal development may set the stage for late clinical manifestations of FMR1-related disorders. © 2016 John Wiley & Sons, Ltd.

SUBMITTER: Zwemer LM

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

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Global transcriptome dysregulation in second trimester fetuses with FMR1 expansions.

Zwemer Lillian M LM Nolin Sarah L SL Okamoto Patricia M PM Eisenberg Marcia M Wick Heather C HC Bianchi Diana W DW

Prenatal diagnosis 20161025 1

<h4>Objective</h4>We tested the hypothesis that FMR1 expansions would result in global gene dysregulation as early as the second trimester of human fetal development.<h4>Method</h4>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.<h4>Results</h4>We found clear signals of differential gene expression relating to a variety of cellular ...[more]

PMID: 27646161

Similar Datasets

Project description:BackgroundAbnormal intracranial findings are often detected at mid-trimester ultrasound (US) in fetuses with myelomeningocele (MMC). It is unclear whether these findings constitute a spectrum of the disease or are an independent finding, which should contraindicate fetal surgery.ObjectiveTo ascertain the spectrum and frequency of US-detected cranial findings in fetuses with MMC.Search strategyMEDLINE, Embase, Web of Science and CENTRAL were searched from January 2000 to June 2020.Selection criteriaStudy reporting incidence of cranial US findings in consecutive cases of second-trimester fetuses with MMC.Data collection and analysisPublication quality was assessed by Newcastle-Ottawa Scale (NOS) and modified NOS. Meta-analysis could not be performed as a result of high clinical diversity and study heterogeneity.Main resultsFourteen cranial US findings were reported in 15 studies. Findings in classic Chiari II malformation (CIIM) spectrum included posterior fossa funnelling (96%), small transcerebellar diameter (82-96%), 'banana' sign (50-100%), beaked tectum (65%) and 'lemon' sign (53-100%). Additional cranial findings were small biparietal diameter (BPD) and head circumference (HC) (<5th centile; 53 and 71%, respectively), ventriculomegaly (45-89%), abnormal pointed shape of the occipital horn (77-78%), thinning of the posterior cerebrum, perinodular heterotopia (11%), abnormal gyration (3%), corpus callosum disorders (60%) and midline interhemispheric cyst (42%).ConclusionsWe identified 14 cranial findings by second-trimester US in fetuses with MMC. The relatively high incidence of these findings and their unclear prognostic significance might not contraindicate fetal surgery in the case of normal fetal genetic testing. Some cranial findings may independently affect postnatal outcome, however. Long-term detailed follow-up is required to investigate this.Tweetable abstractA high rate of cranial abnormalities found on second-trimester ultrasound in fetuses with myelomeningocele.

Dataset Information

Global transcriptome dysregulation in second trimester fetuses with FMR1 expansions.

Publications

Global transcriptome dysregulation in second trimester fetuses with FMR1 expansions.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets