Unknown,Transcriptomics,Genomics,Proteomics

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NONO mutations cause syndromic intellectual disability and inhibitory synaptic defects


ABSTRACT: Identifying causes of sporadic intellectual disability remains a considerable medical challenge. Here, we demonstrate that null mutations in the NONO gene, a member of the Drosophila Behavior Human Splicing (DBHS) protein family, are a novel cause of X-linked syndromic intellectual disability. Comparing humans to Nono-deficient mice revealed related behavioral and craniofacial anomalies, as well as global transcriptional dysregulation. Nono-deficient mice also showed deregulation of a large number of synaptic transcripts, causing a disorganization of inhibitory synapses, with impaired postsynaptic scaffolding of gephyrin. Alteration of gephyrin clustering could be rescued by over-expression of Gabra2 in NONO-compromised neurons. These findings link NONO to intellectual disability and first highlight the key role of DBHS proteins in functional organization of GABAergic synapses.

ORGANISM(S): Homo sapiens

SUBMITTER: Nicolas Cagnard 

PROVIDER: E-MTAB-2894 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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