Second Molecular Event Identification by Exome Sequencing for Intellectually Disabled Patients Carrying 16p13.11 CNVs
- Conditions
- Intellectual Disability
- Interventions
- Genetic: Exome sequencing
- Registration Number
- NCT03644797
- Lead Sponsor
- Hospices Civils de Lyon
- Brief Summary
16p13.11 copy number variations are considered as predisposition factors for neurodevelopmental disorders but can be inherited from normal parents. SEESIC aims at identifying seond molecular events by exome sequencing that could modulate the phenotype and explain familial discrepancies.
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- UNKNOWN
- Sex
- All
- Target Recruitment
- 18
Inclusion Criteria
- Patients presenting intellectual disability
- Patients carrying a 16p13.11 copy number variant
- Blood DNA available without re sampling for the patient and his parents.
- Consent for genetics analysis already for the patient and his parents.
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Exclusion Criteria
- Other diagnosis for intellectual disability (apart 16p13.11 copy number variant) already posed
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Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Arm && Interventions
Group Intervention Description Patients Exome sequencing Patients presenting intellectual disability and previously diagnosed as carriers of a 16p13.11 copy number variant using Cytogenetic Micro Array.
- Primary Outcome Measures
Name Time Method Second pathogenic molecular event on exome data 4 months Number of participants diagnosed as carrier of a (likely) pathogenic variation beyond 16p13.11 CNV through exome sequencing according to ACMG 2015 guidelines
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (1)
Hôpital Femme Mère Enfant (Groupement Hospitalier Est)
🇫🇷Bron, France