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Identification of novel genetic causes of monogenic intellectual disability

Abstract : Intellectual disability (ID) is a group of neurodevelopmental disorders characterized by an extreme genetic heterogeneity, with more than 700 genes currently implicated in Mendelian forms of ID but still some are not yet identified. My PhD project investigates the genetic causes of these monogenic ID by using and combining different NGS techniques. By using this strategy, I reached a relative high diagnostic yield and identified several novel mutations (in AUTS2, THOC6) and genes (BRPF1, NOVA2, etc) involved in ID. For the less characterized ones, I performed functional investigations to prove their pathogenicity, delineate the molecular mechanisms altered and identify their role in this disease. Overall, this work improved and provided new strategies to increase the molecular diagnosis in patients with ID, which is important for their healthcare and better management. Furthermore, the identification and the characterization of novel mutations and genes implicated in ID better delineate the implicated pathophysiological mechanisms, opening the way to potential therapeutic targets.
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Submitted on : Friday, December 21, 2018 - 10:46:24 AM
Last modification on : Friday, October 23, 2020 - 5:00:40 PM
Long-term archiving on: : Friday, March 22, 2019 - 3:36:09 PM


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  • HAL Id : tel-01963143, version 1



Francesca Mattioli. Identification of novel genetic causes of monogenic intellectual disability. Neurobiology. Université de Strasbourg, 2018. English. ⟨NNT : 2018STRAJ035⟩. ⟨tel-01963143⟩



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