Intellectual disability (ID) moderate or severe affects about one child in 250, with 3000 to 4000 new cases each year. Chromosomal or molecular pathology causes are not identified in half of the cases by current techniques. Studies show that de novo mutations are common in many different genes. The "exome" approach by high-throughput sequencing (NGS) has emerged as the technique of choice for identifying and comparing the exome of the child to the parent. We wish to evaluate this approach and its contribution in the diagnostic management of 50 patients with DI seen in genetics in 6 CHU Great West. Genomics platform IBISA / Biogenouest will provide technological and bioinformatics support this project.
Study Type
OBSERVATIONAL
Enrollment
228
Angers University Hospital
Angers, France
Brest University Hospital
Brest, France
Poitiers University Hospital
Poitiers, France
Rennes University Hospital
Rennes, France
Tours University Hospital
Tours, France
Number of patients for which a mutation responsible for the de novo patients DI has been identified
Time frame: 18 months
Number of patients for whom the study of exomes revealed mutations in genes compatible with the mode of recessive autosomal recessive or X-linked chromosome
Time frame: 18 months
Number of de novo mutations (loss of function, missense or indels) probably pathogens identified are not known to be involved in the DI genes.
Time frame: 18 months
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