Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis
- Ramos-Brossier, M.
- Montani, C.
- Lebrun, N.
- Gritti, L.
- Martin, C.
- Seminatore-Nole, C.
- Toussaint, A.
- Moreno, S.
- Poirier, K.
- Dorseuil, O.
- Chelly, J.
- Hackett, A.
- Gecz, J.
- Bieth, E.
- Faudet, A.
- Heron, D.
- Kooy, R.
- Loeys, B.
- Humeau, Y.
- Sala, C.
- et al.
DOIAbstract
Mutations in interleukin-1 receptor accessory protein like 1 (IL1RAPL1) gene have been associated with non-syndromic intellectual disability and autism spectrum disorder. This protein interacts with synaptic partners like PSD-95 and PTPδ, regulating the formation and function of excitatory synapses. The aim of this work is to characterize the synaptic consequences of three IL1RAPL1 mutations, two novel causing the deletion of exon 6 (Δex6) and one point mutation (C31R), identified in patients with intellectual disability. Using immunofluorescence and electrophysiological recordings we examined the effects of IL1RAPL1 mutants over-expression on synapse formation and function in cultured rodent hippocampal neurons. Δex6 but not C31R mutation ...