Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic

Inclusion criteria

• Patients with severe intellectual disability (IQ <35 ) or moderate (IQ <50) isolated or syndromic presentation but undiagnosed . The diagnosis is established during genetic counseling of a 6 CHU interregion
• Lack of family history ( parents). We are interested in this project to patients who do not have family history in order to increase the probability of identifying a de novo mutation . We do not however exclude the hypothesis for some patients a mechanism recessive autosomal or X-linked .
• Recruitment in 6 CHU HUGO . Patients are required to have been seen in genetics in a 6 CHU interregion . Molecular analyzes of the Fragile X syndrome and the CGH technique must be negative.
• Indication sequencing exomique adopted by the Scientific Committee. The Scientific Committee HUGODIMS project role to select patients whose DNA will be studied in order to optimize the chances of success for sequencing . This selection must take into account clinical parameters , but also genetic parameters ( potential inbreeding ) . The files will be selected by videoconferencing at the end of the monthly meeting of CLAD . The methodologist of the study will be invited to videoconferencing.
• specific consent obtained for the study.

Exclusion criteria

• Parents patient with moderate or severe intellectual disability disagree with the preferred hypothesis of de novo mutation or recessive transmission mechanism.
• Form with known syndromic diagnosis can be targeted molecular studies (clinical signs).
• Cause molecular DI identified by targeted molecular analysis or CGH.
• Explicit refusal to participate in the study of the patient, parents, or one of the two parents.
• Any other indication that intellectual disability.
• The parents of the patient or the patient may be removed.