Intellectual Disability
Conditions
Keywords
Intellectual disability, Autism spectrum disorders, gene, Next generation sequencing
Brief summary
Intellectual disability (ID) occurs in 2 to 3 % of the general population but the cause is identified only in 30 to 60% of cases. The purpose of this study is to indentify genes involved in ID with new genetics tools (SNP-arrays, next generation sequencing...) and establish genotype-phenotype correlations.
Interventions
GENETICgene analysis
gene analysis
Sponsors
Institut National de la Santé Et de la Recherche Médicale, France
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
* for the patients: Clinical diagnosis of intellectual disbility * for the unaffected sibs: to be aged at least 3 years * informed consent
Exclusion criteria
* absence of informed consent
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Number of participants with genetic cause identified | 5 years | Number of participants for which the causative gene of intellectual disability will be identified and number of genes involved in intellectual disability identified with new technologies including microarray and next generation sequencing |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| genotype-phenotype correlations | genotype-phenotype correlations (according to the genes identified in a period of 5 years) | Explore genotype-phenotype correlations when a new gene involved in intellectual disability will be identified |
Countries
France
Contacts
STUDY_DIRECTORAlexis Brice, MD
Institut National de la Santé Et de la Recherche Médicale, France
Outcome results
None listed