This study aims to answer a key question in the field of rare genetic diseases by determining the prevalence of deleterious variants at RNA level in undiagnosed patients with intellectual disability and/or neonatal hypotonia. This study will put an end to diagnostic erraticism in a number of patients.
Finally, the results of this study will make it possible to compare the two types of tissue used for RNAseq, with a view to facilitating the implementation of this analysis method in the diagnostic setting.
Male or female, aged 0-99 years
Patient with neonatal intellectual disability and/or hypotonia followed at one of three inclusion centers
Patient or parent has been informed about the study and has signed an informed consent form
Genetic analysis by high-throughput DNA sequencing (gene panel, exome, genome) did not identify any abnormality explaining the patient's phenotype.
Patient deprived of liberty
Pregnant or breast-feeding woman,
The person required to sign the consent form does not understand French
Person under guardianship and/or curatorship
Single group
Blood collection
Procedure/SurgeryBlood is collected in order to perform transcriptomic sequencing from blood
skin biopsy
Procedure/SurgeryA biopsy of skin is performed in order to perform transcriptomic sequencing on fibroblasts obtained from the biopsy
Patients with identified deleterious variant at RNA level
The number of patients initially in diagnostic errancy in whom a deleterious variant at RNA level was identified by transcriptomic analysis (RNAseq).
Comparison of the number of variants obtained from blood and from fibroblasts
Number of deleterious RNA variants identified in patients with diagnostic errancy using ARNseq on fibroblasts and deleterious RNA variants identified using ARNseq on blood samples
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