Second Molecular Event Identification by Exome Sequencing for Intellectually Disabled Patients Carrying 16p13.11 CNVs
- Conditions
- Intellectual Disability
- 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.
Exclusion Criteria
- Other diagnosis for intellectual disability (apart 16p13.11 copy number variant) already posed
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- 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
Related Research Topics
Explore scientific publications, clinical data analysis, treatment approaches, and expert-compiled information related to the mechanisms and outcomes of this trial. Click any topic for comprehensive research insights.
What molecular mechanisms underlie 16p13.11 CNVs in neurodevelopmental disorders and how can exome sequencing identify second hits?
How does exome sequencing improve patient selection for genetic counseling in 16p13.11 CNV-related intellectual disability?
What are the comparative advantages of exome sequencing over karyotype analysis for resolving 16p13.11 CNV phenotypic variability?
Which specific genes within the 16p13.11 region are most associated with intellectual disability when combined with second molecular events?
What adverse events are associated with exome sequencing in pediatric patients with neurodevelopmental disorders?
Trial Locations
- Locations (1)
Hôpital Femme Mère Enfant (Groupement Hospitalier Est)
🇫🇷Bron, France
Hôpital Femme Mère Enfant (Groupement Hospitalier Est)🇫🇷Bron, FranceNicolas CHATRON, MDPrincipal Investigator