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

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT04095585

Acronym

WBA

Enrollment

Registered

2019-09-19

Start date

2014-09-30

Completion date

2015-12-31

Last updated

2019-09-27

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Autism Spectrum Disorder, Williams Beuren Syndrome

Keywords

Williams Beuren Syndrome, Autism Spectrum Disorder

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.

Interventions

GENETICchromosomal 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)

Study design

Observational model

CASE_ONLY

Time perspective

OTHER

Eligibility

Sex/Gender

ALL

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

Design outcomes

Primary

Measure	Time frame	Description
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.

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026