Official Title
Translational 22q11.2:"Molecular Variants Associated With Schizophrenia: Differential Analysis of Monozygotic Twins With Variable Phenotypic 22q11.2 Microdeletional Syndrom"
Brief Title
Molecular Variants Associated With Schizophrenia: Differential Analysis of Monozygotic Twins With Variable Phenotypic 22q11
Protocol ID
NCT04141540
Lead Sponsor
Hôpital le Vinatier
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 Period
-
Enrollment Count
2 participants
Eligibility Criteria
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
Filters
Di George Syndrome
NA
COMPLETED
ADULT