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

Hospices Civils de Lyon18 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

Conditions

Intellectual Disability

Interventions

Exome sequencingGENETIC

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

Eligibility

Sex: ALL

Medical Language ↔ Plain English

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

Locations (1)

Hôpital Femme Mère Enfant (Groupement Hospitalier Est)

Bron, France

Outcomes

Primary Outcomes

Second pathogenic molecular event on exome data

Number of participants diagnosed as carrier of a (likely) pathogenic variation beyond 16p13.11 CNV through exome sequencing according to ACMG 2015 guidelines

Time frame: 4 months

Central Contacts

Nicolas CHATRON, MD

CONTACT

0472129697 nicolas.chatron@chu-lyon.fr

Data from ClinicalTrials.gov

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