Molecular Characterization of Patients Affected by Williams Syndrome and Autism. (WBA)

Civil Hospices of Lyon

Status: Completed

Conditions: Autism Spectrum Disorder; Williams Beuren Syndrome

Treatments: Genetic: chromosomal microarray analysis (CMA) and whole exome sequencing (WES)

Study type: Observational

Funder types: Other

Identifiers

NCT04095585

2019-WBA

Details and patient eligibility

About

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.

Enrollment: 6 patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion criteria

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

Exclusion criteria

• None

Trial design

6 participants in 1 patient group

Patients presenting with WBS and ASD

Description:

patients with WBS and ASD. The diagnosis of WBS was confirmed by fluorescent in situ hybridization. All patients met formal ASD criteria.

Treatment:

Genetic: chromosomal microarray analysis (CMA) and whole exome sequencing (WES)