Second Molecular Event Identification by Exome Sequencing for Intellectually Disabled Patients Carrying 16p13.11 CNVs

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

18 participants

Study Classification

OBSERVATIONAL

Study Start Date

2018-09-30

Study Completion Date

2019-03-31

Brief Summary

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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.

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Detailed Description

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Conditions

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Intellectual Disability

Study Design

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Observational Model Type

COHORT

Study Time Perspective

RETROSPECTIVE

Study Groups

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Patients

Patients presenting intellectual disability and previously diagnosed as carriers of a 16p13.11 copy number variant using Cytogenetic Micro Array.

Exome sequencing

Intervention Type GENETIC

Detection of a second (likely) pathogenic molecular event on exome data for intellectual disability beyond the 16p13.11 Copy Number Variant.

Interventions

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Exome sequencing

Detection of a second (likely) pathogenic molecular event on exome data for intellectual disability beyond the 16p13.11 Copy Number Variant.

Intervention Type GENETIC

Eligibility Criteria

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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.