Study of the Involvement of 15q11 - q13 Chromosome Region and CYFIP1 Gene in Autism. Attempt a Genotype-phenotype Correlation

August 8, 2016 updated by: Centre Hospitalier Universitaire de Nice

Autism, ranked among the '' pervasive developmental disorders' (ASD), is characterized by disturbances in the areas of reciprocal social interaction, communication and behavior, interests and activities restricted, repetitive. Various studies indicate that autistic disorder is subjected to a genetic predisposition, most likely polygenic and heterogeneous. However, no major gene responsible for this disorder has yet been identified. Given the link between the Fragile X syndrome (the most common form of mental retardation (MR) hereditary) and autistic behavior, it seems interesting to look, also, a possible link to the molecular level. Among the proteins interacting with FMRP (absent protein in fragile X patients), the investigators were interested to CYFIP1, protein encoded by the gene CYFIP1 appears to be a good candidate gene involved in the RM and autism by its chromosomal position and function. As FMR1, CYFIP1 is expressed in the brain cortex, hippocampus and Purkinje cells of the cerebellum. This protein co-localizes and interacts with Rac and FMRP, which are both involved in neurogenesis and cognitive development. In humans, the gene encoding CYFIP1 is located in the 15q11-q13. Now, the only autosomal abnormalities most frequently observed in autism are those involving the proximal 15q region, including duplications or 15q11-q13 triplications interstitial, of maternal origin.

These data suggest that an / or more autism genes responsible are probably present in the 15q11-q13 chromosomal region, although no gene has yet been identified. Thus, the study of the role of CYFIP1 gene in patients with autism spectrum disorders would most likely contributory.

The investigators wish to study the involvement of the 15q11-q13 chromosomal region and CYFIP1 gene in autistic disorder in a hundred patients from the Autism Resource Centre (ARC) Nice PACA antenna, over a two year period.

The diagnosis and assessment report of children likely to be included in this study will be conducted at ARC Nice. Balance sheets are made according to the recommendations of the High Authority of Health for diagnosis of infantile autism and PDD. These children are then sent to the Genetic Consultation Nice Hospital where an analysis of the background and a specific morphological examination will be realized..

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Study Type

Interventional

Enrollment (Actual)

60

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

      • Nice, France
        • CHU de Nice

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

4 years to 18 years (ADULT, CHILD)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

Inclusion Criteria:

  • Subject unadopted 4 to 18 years
  • Subject completing the autism spectrum disorder criteria development by diagnostic grid ICD10 recognized by the international community child psychiatry. The ADI-R test is always associated.
  • Subject has at least one of the following abnormalities:

Mental retardation, Anomaly morphological examination (abnormal weight and height growth and / or head circumference, abnormal ends, dysmorphic ...) Malformation (s) visceral (s) Behavioural disorders other than autistic disorder (aggression, sleep disorders ...) Abnormal neurological examination and brain imaging, Family history of autism and / or mental retardation.

- Parents of the subject and topics affiliated to a social security scheme

Exclusion Criteria:

  • Etiologie de la pathologie autistique connue (Syndrome de Rett, Xfra…)
  • Absence de consentement éclairé des patients et des représentants de l'autorité parentale
  • Parents sous tutelle ou curatelle

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: DIAGNOSTIC
  • Allocation: NA
  • Interventional Model: SINGLE_GROUP
  • Masking: NONE

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
OTHER: Autistic disorder
Children over 4 years with an autistic disorder of unknown etiology with the techniques currently available and accessible in routine diagnostics.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
presence or absence of abnormality in 15q11q13 gene
Time Frame: At the inclusion
Testing a candidate gene in a chromosomal region known to be involved in autism
At the inclusion

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
phenotype
Time Frame: At the inclusion
Syndromic or specific behavioral phenotypes corresponding to the identified molecular abnormalities
At the inclusion

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

January 1, 2008

Primary Completion (ACTUAL)

January 1, 2008

Study Completion (ACTUAL)

February 1, 2012

Study Registration Dates

First Submitted

July 21, 2016

First Submitted That Met QC Criteria

August 8, 2016

First Posted (ESTIMATE)

August 11, 2016

Study Record Updates

Last Update Posted (ESTIMATE)

August 11, 2016

Last Update Submitted That Met QC Criteria

August 8, 2016

Last Verified

August 1, 2016

More Information

Terms related to this study

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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