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| ID | Type | Description | Link |
|---|---|---|---|
| 2012-A00936-37 | Registry Identifier | IDRCB |
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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Intellectual disability | patients with intellectual disability or psycho-motor retardation and their parents and sibs (affected or not) |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| gene analysis | Genetic | gene analysis |
|
| Measure | Description | Time Frame |
|---|---|---|
| Number of participants with genetic cause identified | 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 | 5 years |
| Measure | Description | Time Frame |
|---|---|---|
| genotype-phenotype correlations | Explore genotype-phenotype correlations when a new gene involved in intellectual disability will be identified | genotype-phenotype correlations (according to the genes identified in a period of 5 years) |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Alexis Brice, MD | Institut National de la Santé Et de la Recherche Médicale, France | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| CRICM - UPMC/Inserm UMR_S975/CNRS UMR7225, Groupe Hospitalier de la Pitié-Salpêtrière, | Paris | 750013 | France |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 23092983 | Background | Nava C, Lamari F, Heron D, Mignot C, Rastetter A, Keren B, Cohen D, Faudet A, Bouteiller D, Gilleron M, Jacquette A, Whalen S, Afenjar A, Perisse D, Laurent C, Dupuits C, Gautier C, Gerard M, Huguet G, Caillet S, Leheup B, Leboyer M, Gillberg C, Delorme R, Bourgeron T, Brice A, Depienne C. Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE. Transl Psychiatry. 2012 Oct 23;2(10):e179. doi: 10.1038/tp.2012.102. |
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| ID | Term |
|---|---|
| D008607 | Intellectual Disability |
| D000067877 | Autism Spectrum Disorder |
| ID | Term |
|---|---|
| D019954 | Neurobehavioral Manifestations |
| D009461 | Neurologic Manifestations |
| D009422 | Nervous System Diseases |
| D012816 | Signs and Symptoms |
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DNA RNA Plasma Urines
| D013568 | Pathological Conditions, Signs and Symptoms |
| D065886 | Neurodevelopmental Disorders |
| D001523 | Mental Disorders |
| D002659 | Child Development Disorders, Pervasive |