NCT04141540

Molecular Variants Associated With Schizophrenia: Differential Analysis of Monozygotic Twins With Variable Phenotypic 22q11

Translational 22q11.2:"Molecular Variants Associated With Schizophrenia: Differential Analysis of Monozygotic Twins With Variable Phenotypic 22q11.2 Microdeletional Syndrom"

• Status: Completed
• Phase: N/A
• Study type: Interventional
• Enrollment: 2 (actual)
• Sponsor: Hôpital le Vinatier · Academic / Other
• Sex: Male
• Age: 18 Years – 45 Years
• Healthy volunteers: Not accepted

Summary

The 22q11.2 microdeletion syndrome (22q11.2DS) is a rare disease with a psychiatric phenotype. Indeed, the diagnosis of schizophrenia is made in 5 to 10% of adolescents and 25 to 40% of adults carrying the 22q11DS. Thus, although this pathology has been able to provide a genetically homogeneous model for the study psychosis etiology, it is not currently possible to establish a link between genomic rearrangement and psychotic symptoms. However, this robust model of genetic vulnerability could provide us a lot of translational informations about schizophrenia genetics. To go furthermore, twin studies have provided us precious data for the study of hereditary diseases. Combining this two approaches, the translational 22q11.2 project proposes a molecular study of two monozygotic 22q11.2DS twins discordant for the psychiatric phenotype -one carrying schizophrenia and the other having no psychiatric symptoms-.

Detailed description

The main objective of the study is to propose a whole exome sequencing (WES), pan-genomic in whole genome sequencing (WGS), transcriptomic, epigenomic and intestinal microbiome approaches in order to determine specific molecular basis of psychotic symptoms in 22q11.2DS.

Conditions

• Di George Syndrome

Interventions

Type	Name	Description
GENETIC	Molecular analyses	Comparaison of the molecular profil between two monozygotic twins carrying a deletion 22q11.2

Timeline

• Start date: 2020-03-27
• Primary completion: 2020-11-30
• Completion: 2020-12-30
• First posted: 2019-10-28
• Last updated: 2021-02-09

Locations

1 site across 1 country: France