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Molecular Characterization of Patients Affected by Williams Syndrome and Autism.

NCT04095585 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 6

Last updated 2019-09-27

No results posted yet for this study

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

Interventions

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)

Sponsors & Collaborators

  • Hospices Civils de Lyon

    lead OTHER

Principal Investigators

  • Massimiliano Rossi, MD · Hospices Civils de Lyon

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2014-09-30
Primary Completion
2015-11-30
Completion
2015-12-31

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04095585 on ClinicalTrials.gov