Molecular Variants Associated With Schizophrenia: Differential Analysis of Monozygotic Twins With Variable Phenotypic 22q11 (CSRK05)

Hôpital le Vinatier

Status: Completed

Conditions: Di George Syndrome

Treatments: Genetic: Molecular analyses

Study type: Interventional

Funder types: Other

Identifiers

NCT04141540

2019-A00852-55

Details and patient eligibility

About

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-.

Full 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.

Enrollment: 2 patients

Sex: Male

Ages: 18 to 45 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• • Sisterhood of monozygotic twins diagnosed with de novo 22q11.2DS is confirmed by CGH array and discordant for the psychiatric phenotype

Exclusion criteria

• • Refusal to use data for research purposes

Trial design

Primary purpose: Diagnostic

Allocation: Non-Randomized

Interventional model: Parallel Assignment

Masking: None (Open label)

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2 participants in 2 patient groups

Groupe "Twin 1"

Other group

Description:

Twin 1 with psychotic symptoms (PANSS +) Molecular analyses 1

Treatment:

Genetic: Molecular analyses

Groupe "Twin 2"

Other group

Description:

Twin 2 without psychotic symptoms (PANSS +) Molecular analyses 2

Treatment:

Genetic: Molecular analyses