New Genes Involved in Molecular Etiology of Rett Syndrome Through DNA Microarray Comparative Genomic Hybridization

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Brief Title

New Genes Involved in Molecular Etiology of Rett Syndrome Through DNA Microarray Comparative Genomic Hybridization

Official Title

Search for New Genes Involved in Molecular Etiology of Rett Syndrome Through Comparative Genomic Hybridization on DNA Microarrays

Brief Summary

      Rett syndrome (RTT) is a genetic encephalopathy and the typical form is caused by mutations
      in the gene MECP2. It is a genetically heterogeneous pathology. CDKL5 and FOXG1 have been
      recently discovered being involved in other forms of RTT. However, at least 5% of typical
      forms and more other atypical forms are not linked to any of 3 genes known to be involved in
      the disease.

      The purpose of this study is to identify new genes involved in molecular etiology of typical
      and atypical forms of RTT.
    

Detailed Description

      Search for pathogenic chromosomal imbalance through comparative genomic hybridization (aCGH)
      on DNA microarrays will be done in a group of patients having typical or atypical forms of
      RTT without known mutations in MECP2, CDKL5 et FOXG1B genes.

      After imbalance confirmation by qPCR, the pathogenic potential of the segmental aneusomy will
      be assigned according to the interpretation of aCGH technique-dedicated DECEPHER, BACH and
      GVD databases. Analysis of parents will allow distinguishing between inherited polymorphic
      variants and potentially deleterious new imbalances.

      In case of a new imbalance, a bioinformatics approach will look for candidate genes that will
      be possibly confirmed by classic mutation screening (sequencing and PCR) in all typical and
      atypical cases of RTT present in the cohort.

      The identification of new genes involved in RTT will ameliorate the molecular diagnosis of
      the disease and genetic counseling for families. This project will allow progression in
      comprehension of physiopathological mechanisms of cerebral development abnormalities
    


Study Type

Interventional


Primary Outcome

Analysis of chromosomal imbalances through comparative genomic hybridization on DNA microarrays


Condition

Rett Syndrome

Intervention

Blood sampling

Study Arms / Comparison Groups

 RTT patient
Description:  Blood sampling

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

Procedure

Estimated Enrollment

17

Start Date

February 2010

Completion Date

May 2011

Primary Completion Date

May 2011

Eligibility Criteria

        Inclusion Criteria:

          -  Patients: RETT syndrome

          -  Patients: Female

          -  Parents: parent of a patients
      

Gender

All

Ages

N/A - N/A

Accepts Healthy Volunteers

Accepts Healthy Volunteers

Contacts

Christophe PHILIPPE,, , 

Location Countries

France

Location Countries

France

Administrative Informations


NCT ID

NCT02885090

Organization ID

2009-A01147-50


Responsible Party

Sponsor

Study Sponsor

Central Hospital, Nancy, France


Study Sponsor

Christophe PHILIPPE,, Principal Investigator, Laboratoire de Génétique Médicale, Rue du Morvan, 54511 Vandoeuvre-Les-Nancy Cédex


Verification Date

August 2016