Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.

E3 ubiquitin ligases have been linked to developmental diseases including autism, Angelman syndrome (UBE3A), and Johanson-Blizzard syndrome (JBS) (UBR1). Here, we report variants in the E3 ligase UBR5 in 29 individuals presenting with a neurodevelopmental syndrome that includes developmental delay, autism, intellectual disability, epilepsy, movement disorders, and/or genital anomalies. Their phenotype is distinct from JBS due to the absence of exocrine pancreatic insufficiency and the presence of autism, epilepsy, and, in some probands, a movement disorder.

Digging below the surface: Hidden risks for ground-nesting bees.

Hidden risks for ground-nesting bees.

Bumblebee (Bombus impatiens) queens prefer pesticide-contaminated soils when selecting underground hibernation sites.

New evidence points to substantial impacts of exposure to pesticide residues in soil for a range of bee taxa that have close regular contact with this substrate. Among others, the risk of exposure is high for bumblebee (Bombus spp.) queens hibernating in agricultural soils.

Pathogenic missense variants affecting p.Gly392 have variable functional implications and result in diverse clinical phenotypes.

-associated syndrome (SAS) is caused by pathogenic variants in , which encodes an evolutionarily conserved transcription factor. Despite the broad range of phenotypic manifestations and variable severity related to this syndrome, haploinsufficiency has been assumed to be the primary molecular explanation.In this study, we describe eight individuals with variants that affect p.

Understanding and comparing relative pesticide risk among North American wild bees from their association with agriculture.

In North America, approximately 21 % (739 species) of the total wild bee diversity is known to be associated with crops, with bee species varying in the extent of this association. While current evaluations of pesticide effects on bees primarily focus on a limited subset of species, a new focus is needed to ensure comprehensive protection of all wild bees in agricultural contexts. This study introduces a novel approach to characterize and compare the relative potential pesticide risk for wild bee species of their association with crops.