Translational 22q11.2:"Molecular Variants Associated With Schizophrenia: Differential Analysis of Monozygotic Twins With Variable Phenotypic 22q11.2 Microdeletional Syndrom"
Trial Snapshot
- Phase
- Not Applicable
- Status
- Completed
- Sponsor
- Enrollment
- 2
- Locations
- 2
- Primary Endpoint
- Whole exome sequencing
Study Overview
Brief 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.
Study Design
- Study Type
- Interventional
- Allocation
- Non Randomized
- Intervention Model
- Parallel
- Primary Purpose
- Diagnostic
- Masking
- None
Eligibility Criteria
- Ages
- 18 Years to 45 Years (Adult)
- Sex
- Male
- Accepts Healthy Volunteers
- No
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
Outcomes
Primary Outcomes
Whole exome sequencing
Time Frame: 6 months
Searching for mosaic genetic variations that may have occurred secondarily to conception
Secondary Outcomes
- Transcriptome(6 months)
- Microbiotic DNA(6 months)
- Positive And Negative Syndrome Scale (PANSS)(6 months)
- Mini-International Neuropsychiatric Interview (MINI)(6 months)
- Hospital Anxiety and Depression Scale (HADS)(6 months)
- Methylome(6 months)