Molecular Characterization of Patients Affected by Williams Syndrome and Autism.

Brief Title

Molecular Characterization of Patients Affected by Williams Syndrome and Autism.

Official Title

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



Study Type

Observational


Primary Outcome

Possible presence of pathogenic chromosomal


Condition

Williams Beuren Syndrome

Intervention

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

Study Arms / Comparison Groups

 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.

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information


Recruitment Status

Genetic

Estimated Enrollment

6

Start Date

September 2014

Completion Date

December 2015

Primary Completion Date

November 2015

Eligibility Criteria

        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
      

Gender

All

Ages

N/A - N/A

Accepts Healthy Volunteers

No

Contacts

Massimiliano Rossi, MD, , 



Administrative Informations


NCT ID

NCT04095585

Organization ID

2019-WBA


Responsible Party

Sponsor

Study Sponsor

Hospices Civils de Lyon


Study Sponsor

Massimiliano Rossi, MD, Principal Investigator, Hospices Civils de Lyon


Verification Date

September 2019