Search for Phenotype-modifying Genes in Patients With Intellectual Disabilities.

Thanks to the contribution of NGS analyses (exome and genome analysis), the rate of etiological diagnosis in intellectual disability is currently approaching 42% in some meta-analyses. At Bordeaux University Hospital, since 2017, 700 patients have been sequenced for intellectual disability, with a diagnostic rate of 33%.

In genetics, epistasis refers to the interaction between two or more genes. As part of its previous work, BIONOMEEX has developed an algorithm called GWAS-2D (genome wide association study 2 dimension) which makes it possible to observe, from a large number of samples and for a given phenotype, the relationships existing between two loci on the genome.

The GWAS-2DI project involves the reanalysis of exome sequencing data from patients with intellectual disabilities at Bordeaux University Hospital, using a GWAS-2D algorithm developed by BIONOMEEX to search for phenotype-modifying genes.

Inclusion criteria

• Patients with Intellectual Disability or related but not affected by them
• Major or minor with autorisation of legal representative
• Exome sequencing in Bordeaux University Hospital between 2018 and 2024

Exclusion criteria

• Refusal to participate in research protocols
• Refusal to participate expressed following receipt of information letter.