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

Civil Hospices of Lyon

Status: Unknown

Conditions: Intellectual Disability

Treatments: Genetic: Exome sequencing

Study type: Observational

Funder types: Other

Identifiers

NCT03644797

69HCL17_0693

Details and patient eligibility

About

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.

Enrollment: 18 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

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

Trial design

18 participants in 1 patient group

Patients

Description:

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

Treatment:

Genetic: Exome sequencing