The main objective of the study is to define, for Autism Spectrum Disorder, the extent of genetic variation in synaptic pathways that may be targeted for therapeutic development. For this purpose the investigators will take advantage of large, well-characterized cohorts of patients with Autism Spectrum Disorder for genetic screenings. Targeted sequencing of selected synaptic genes, previously associated with Autism Spectrum Disorder, will be carried out in these cohorts with deep coverage of coding regions and a strong focus on previously untested regulatory regions. Genomic data from Copy Number Variant, whole genome sequencing and exome sequencing, available for some of these patients, will be integrated in the overall analysis. The investigators will strongly emphasize the establishment of comprehensive genotype/phenotype correlations.
Aim 1: To identify genetic variants in selected synaptic genes, by targeted sequencing with deep coverage of coding regions and a strong focus on previously untested regulatory regions in Autism Spectrum Disorder Aim 2: To define the range of clinical phenotypes caused by mutations in synaptic genes by establishing detailed genotype/phenotype correlations and analyzing segregation in families with multiple individuals affected by Autism Spectrum Disorder, Autism Spectrum Disorder traits or other neuropsychiatric disorders Aim 3: To identify the neuronal phenotypes caused by deleterious synaptic mutations for further translational studies
Study Type
OBSERVATIONAL
Enrollment
3,800
Diagnostic Interview-Revised (ADI-R) criteria for autism and Autism Diagnostic Observation Schedule (ADOS-G) criteria for autism or Autism Spectrum Disorders.
Centre de rehabilitation psychosociale, Hopital Saint Egreve
Grenoble, Grenoble, France
NOT_YET_RECRUITINGCIC, CHU Bordeaux
Bordeaux, France
RECRUITINGCRA, Hopital Charles Perrens, Bordeaux
Bordeaux, France
RECRUITINGCIC, H. Mondor, Creteil
Créteil, France
NOT_YET_RECRUITINGAlbert Chenevier Hospital
Créteil, Île-de-France Region, France
NOT_YET_RECRUITINGRobert Debré Hospital
Paris, Île-de-France Region, France
NOT_YET_RECRUITINGPrevalence of synaptic gene deleterious mutations in patients with Autism Spectrum Disorder
Prevalence of synaptic gene deleterious mutations in patients with Autism Spectrum Disorder
Time frame: up to 12 months after completion of the inclusion and molecular explorations
Prevalence of the deleterious mutations in the major biological pathways in Autism Spectrum Disorder
The deleterious mutations that the investigators will identify in genes related to Autism Spectrum Disorders will help to have a comprehensive framework of biological pathways involved in Autism Spectrum Disorder
Time frame: up to 12 months after completion of the inclusion and molecular explorations
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