Severe Intellectual Disability
Conditions
Keywords
Whole exome sequencing, Molecular diagnostic, Genetic counselling
Brief summary
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
Interventions
None listed
Sponsors
Centre Hospitalier Universitaire de Besancon
Study design
Observational model
CASE_ONLY
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Number of patients with a molecular diagnostic and diagnostic yield | up to 12 months |
Secondary
| Measure | Time frame |
|---|---|
| Cost/diagnostic ratio in comparison with conventional techniques | up to 12 months |
| Reporting time in comparison with conventional techniques | up to 12 months |
Countries
France
Outcome results
None listed