NCT04095585

Molecular Characterization of Patients Affected by Williams Syndrome and Autism.

Molecular Investigation, Using Chromosomal Microarray and Whole Exome Sequencing, of Patients Affected by Williams Beuren Syndrome and Autism Spectrum Disorder

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 6 (actual)
• Sponsor: Hospices Civils de Lyon · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

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.

Conditions

• Williams Beuren Syndrome
• Autism Spectrum Disorder

Interventions

Type	Name	Description
GENETIC	chromosomal microarray analysis (CMA) and whole exome sequencing (WES)	The investigator evaluated the following hypotheses: i) atypically large 7q11.23 deletions including additional genes; ii) rare pathogenic variants in genes located within the deletion, in particular GTF2I iii) additional pathogenic copy number variants (CNVs) or rare intragenic pathogenic variants located in other chromosomal regions with various inheritance patterns (autosomal recessive, X-linked, de novo autosomal dominant); given the small number of patients recruited, we focused on rare exonic variants considered to be pathogenic according to the criteria of the American College of Medical Genetics and Genomics (ACMG)

Timeline

• Start date: 2014-09-01
• Primary completion: 2015-11-01
• Completion: 2015-12-01
• First posted: 2019-09-19
• Last updated: 2019-09-27