Induced Pluripotent Stem Cells
Conditions
Brief summary
Fetal and postnatal growth is finely regulated by genetic, epigenetic and environmental mechanisms. Parental imprinting is a regulatory mechanism that allows monoallelic expression of certain genes from a single parental allele through differential DNA methylation. Imprinted genes play a very important role in the control of fetal and postnatal growth. The pathophysiological mechanisms of these epimutations are largely unknown. Studying the consequences of these epimutations on the molecular signature of the imprinted gene network in these patients would provide a better understanding of the epigenetic mechanisms regulating fetal growth. As these genes are weakly expressed in fibroblasts, these studies will be carried out on pluripotent stem cells or IPSCs (Induced Pluripotent Stem Cells).
Interventions
OTHERDiagnostic Test
Molecular diagnosis carried out in the context of care
Sponsors
Institute of Cardiometabolism and Nutrition, France
Study design
Observational model
CASE_ONLY
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
3 Months to No maximum
Healthy volunteers
No
Inclusion criteria
1. Minor or young adult patients treated in the department, suffering from rare growth diseases: Silver-Russell syndrome (SRS), Beckwith-Wiedemann syndrome (BWS) and Temple syndrome (TS) 2. For minors, the patient's weight must be ≥ 5 kg
Exclusion criteria
* Patients unable to express their opposition to the use of their personal data.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| The objective of the study is to understand the consequences of epimutations found | 1 day | The objective of the study is to understand the consequences of epimutations found at 11p15 or 14q32 in these three syndromes (SRS, BWS and TS) on the network of genes subject to parental imprinting, in order to progress in the understanding of the mechanisms governing the epigenetic regulation of fetal growth. |
Countries
France
Outcome results
None listed