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Maéva Langouët, Abdelkrim Saadi, Guillaume Rieunier, Sébastien Moutton, Karine Siquier-Pernet, Marie Fernet, Patrick Nitschke, Arnold Munnich, Marc-Henri Stern, Malika Chaouch and Laurence Colleaux Mutation in TTI2 Reveals a Role for Triple T Complex in Human Brain Development Human Mutation 34

Article first published online: 10 SEP 2013 | DOI: 10.1002/humu.22399

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We identified a mutation in TTI2 as a novel cause of autosomal recessive syndromic intellectual disability. TTI2 encodes one of the subunits of the Triple T complex, a regulator of phosphoinositide-3-kinase-related protein kinase (PIKKs) abundance. We demonstrated impaired stability of the Triple T complex and reduced steady-state level of all PIKKs in patient cells. These findings assess the role of TTI2 in the aetiology of intellectual disability and further support the role of PIKK signalling in brain development and functioning.

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