Molecular Diagnosis of Syndromic or Isolated Severe Intellectual Disability Using Whole Exome Sequencing : a Pilot Study

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

18 participants

Study Classification

OBSERVATIONAL

Study Start Date

2019-03-15

Study Completion Date

2019-12-03

Brief Summary

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Evaluation of diagnostic whole exome sequencing in patients with syndromic or isolated severe intellectual disability without a molecular diagnostic, with suspected autosomal recessive inheritance, allowing accurate genetic counseling in this high risk of recurrence group of diseases

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Detailed Description

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Conditions

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Severe Intellectual Disability

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

RETROSPECTIVE

Eligibility Criteria

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Inclusion Criteria

* Clinical diagnosis of syndromic or isolated severe intellectual disability (IQ \<50) without a molecular diagnosis
* Recurrence in siblings (multiplex families) suggesting autosomal recessive inheritance (with or without parental consanguinity) or sporadic cases from a consanguineous union
* Conventional genetic tests performed (including array-CGH) and MRI/CT-scan available
* DNA samples from parents and from both unaffected or affected siblings available, for parental segregation and confirmation of candidate variations identified.
* Availability of a signed informed consent
* To be affiliated or beneficiary of French social security/healthcare system

Exclusion Criteria

* Parents in the exclusion period of another study or as provided by the national register of volunteers
* High-probability diagnostic hypothesis for which a molecular test is available at lower cost than exome sequencing

Eligible Sex

ALL

Accepts Healthy Volunteers

No