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Identification de deux gènes, WDR73 et UBA5, impliqués dans la déficience intellectuelle sévère syndromique

Abstract : The prevalence of intellectual disability is estimated between 1% and 3% of the population. In France, mild intellectual disability affects between 10 and 20 per 1,000 people and severe intellectual disability between from 3 to 4 per 1,000 people. Intellectual disability is part of a heterogeneous group of syndromic and nonsyndromic pathologies with limitation in intellectual functioning and adaptive behavior appearing before the age of 18 and causing a disability. The causes of intellectual disability affect neurogenesis and / or neuronal functions. About 50% of intellectual disabilities are still undetermined. Genetic etiologies explain a large number of intellectual disabilities and more particularly the severe forms. New technologies, such as Array- Based Comparative Genomic Hybridization and next generation sequencing, have increased the diagnostic yield to 55-70% in moderate to severe intellectualdisability. Thanks to these techniques, we have been able to identify and characterize two new genes involved in severe autosomal recessive syndrome: the WDR73 gene responsible for Galloway Mowat syndrome which associates severe intellectual disability with corticosteroid-resistant nephrotic syndrome, and the UBA5 gene, involved in the ufmylation process in early encephalopathy.
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https://tel.archives-ouvertes.fr/tel-01779944
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Submitted on : Friday, April 27, 2018 - 9:42:06 AM
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Estelle Colin. Identification de deux gènes, WDR73 et UBA5, impliqués dans la déficience intellectuelle sévère syndromique. Médecine humaine et pathologie. Université d'Angers, 2017. Français. ⟨NNT : 2017ANGE0043⟩. ⟨tel-01779944⟩

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