Molecular Characterization of Patients Affected by Williams Syndrome and Autism.

Completed

• Conditions: Williams Beuren Syndrome; Autism Spectrum Disorder
• Interventions: Genetic: chromosomal microarray analysis (CMA) and whole exome sequencing (WES)

• Registration Number: NCT04095585
• Lead Sponsor: Hospices Civils de Lyon

Brief Summary

Williams Beuren syndrome (WBS) is a multiple malformations/intellectual disability (ID) syndrome caused by 7q11.23 microdeletion and clinically characterized by a typical neurocognitive profile including excessive talkativeness and social disinhibition, often defined as "overfriendliness" and "hypersociability". WBS is generally considered as the polar opposite phenotype to Autism Spectrum Disorder (ASD). Surprisingly, the prevalence of ASD has been reported to be significantly higher in WBS (12%) than in general population (1%). This study aims to investigate the molecular basis of the peculiar association of ASD and WBS. The investigator performed chromosomal microarray analysis and whole exome sequencing in six patients presenting with WBS and ASD, in order to evaluate the possible presence of chromosomal or gene variants considered as pathogenic.

Detailed Description

Not available

Study Timeline

• Study Start: 2014-09
• Primary Completion: 2015-11
• Study Completion: 2015-12
• Status Verified: 2019-09
• Study First Submitted: 2019-09-16
• Study First Submitted QC: 2019-09-17
• Study First Posted: 2019-09-19
• Last Update Submitted: 2019-09-25
• Last Update Posted: 2019-09-27

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 6

Inclusion Criteria

• The diagnosis of WBS was confirmed by fluorescent in situ hybridization.
• All patients met formal ASD criteria
• written informed consent

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Exclusion Criteria

• None

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Patients presenting with WBS and ASD	chromosomal microarray analysis (CMA) and whole exome sequencing (WES)	patients with WBS and ASD. The diagnosis of WBS was confirmed by fluorescent in situ hybridization. All patients met formal ASD criteria.

Primary Outcome Measures

Name	Time	Method
Possible presence of pathogenic chromosomal	Day 0	Assessed by chromosomal microarray analysis (CMA) and whole exome sequencing (WES) performed on DNA samples collected from the patients.
Possible presence of gene variants	Day 0	Assessed by chromosomal microarray analysis (CMA) and whole exome sequencing (WES) performed on DNA samples collected from the patients.