Developing Derived Induced Pluripotent Stem Cells as a Model to Understand Imprinted Disorders

N/AEnrolling By InvitationNCT05214742

Institute of Cardiometabolism and Nutrition, France20 enrolled

Overview

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).

Study Type

OBSERVATIONAL

Enrollment

Conditions

Induced Pluripotent Stem Cells

Interventions

Diagnostic TestOTHER

Molecular diagnosis carried out in the context of care

Eligibility

Medical Language ↔ Plain English

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.

Outcomes

Primary Outcomes

The objective of the study is to understand the consequences of epimutations found

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.

Time frame: 1 day