The teams of Laurent Fasano and Lydia Kerkerian-Le Goff, in collaboration with Bianca Habermann and partners from other laboratories of Aix-Marseille University, Montpellier and Berlin, publish on Biological Psychiatry a study showing a link between postnatal loss of Tshz3 gene and ASD.

We have previously shown that heterozygous deletions on 19q12 chromosome encompassing TSHZ3 gene are associated to a syndrome characterized by ASD and renal tract abnormalities, which we modeled in mice (Caubit et al, Nat Genet 2016). Our last study (Chabbert et al, Biol Psychiatry 2019) shows that postnatal conditional deletion of Tshz3 in mouse, affecting cortical projection neurons, induces behavioral deficits mimicking ASD, as well as abnormalities in synaptic transmission and plasticity in the corticostriatal circuit. These changes are associated to dysregulation of the cortical expression of more than 1000 genes, in particular coding for synaptic components, half of which has human orthologues involved in ASD. This work reveals a crucial postnatal role of TSHZ3, supports the idea of ASD as a synaptopathy, and reveals the existence of a potential therapeutic window for the syndrome due to TSHZ3 deletion.

Graphical abstract Biol Psy2019 E


To know more :
  • Postnatal Tshz3 deletion drives altered corticostriatal function and ASD-like behavior.

    Chabbert D, Caubit X, Roubertoux PL, Carlier M, Habermann B, Jacq B, Salin P, Metwaly M, Frahm C, Fatmi A, Garratt AN, Severac D, Dubois E, Kerkerian-Le Goff L, Fasano L, Gubellini P (2019) Biol Psychiatry, DOI:

Authors currently from Aix-Marseille University and their affiliation:

Xavier Caubit, Bianca Habermann, Pascal Salin, Ahmed Fatmi, Lydia Kerkerian-Le Goff, Laurent Fasano, Paolo Gubellini
Aix Marseille Univ, CNRS, IBDM UMR7288, Marseille, France.

Pierre L. Roubertoux
Aix Marseille Univ, INSERM, MMG UMR1251, Marseille, France.

Michèle Carlier
Aix Marseille Univ, CNRS, LPC UMR7920, Marseille, France.