SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice.

SLITRK2 is a single-pass transmembrane protein expressed at postsynaptic neurons that regulates neurite outgrowth and excitatory synapse maintenance. In the present study, we report on rare variants (one nonsense and six missense variants) in SLITRK2 on the X chromosome identified by exome sequencing in individuals with neurodevelopmental disorders. Functional studies showed that some variants displayed impaired membrane transport and impaired excitatory synapse-promoting effects.

De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females.

Purpose: MED12 is a subunit of the Mediator multiprotein complex with a central role in RNA polymerase II transcription and regulation of cell growth, development, and differentiation. This might underlie the variable phenotypes in males carrying missense variants in MED12, including X-linked recessive Ohdo, Lujan, and FG syndromes.

Methods: By international matchmaking we assembled variant and clinical data on 18 females presenting with variable neurodevelopmental disorders (NDDs) and harboring de novo variants in MED12.

Magnetic Sedimentation Velocities and Equilibria in Dilute Aqueous Ferrofluids.

Dilute ferrofluids have important applications in the separation of materials via magnetic levitation. However, dilute ferrofluids pose an additional challenge compared to concentrated ones. Migration of the magnetic nanoparticles toward a magnet is not well counteracted by a buildup of an osmotic pressure gradient, and consequently, homogeneity of the fluid is gradually lost.

Colloidal Stability of Aqueous Ferrofluids at 10 T.

Magnetic density separation is an emerging recycling technology by which several different waste materials-from plastic products, electronics, or other-can be sorted in a single continuous processing step. Larger-scale installations will require ferrofluids that remain stable at several teslas, high magnetic fields at which colloidal stability was not investigated before. Here we optically monitor the concentration profile of iron oxide nanoparticles in aqueous ferrofluids at a field of 10 T and a gradient of 100 T/m.

High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer.

In many children with cancer and characteristics suggestive of a genetic predisposition syndrome, the genetic cause is still unknown. We studied the yield of pathogenic mutations by applying whole-exome sequencing on a selected cohort of children with cancer. To identify mutations in known and novel cancer-predisposing genes, we performed trio-based whole-exome sequencing on germline DNA of 40 selected children and their parents.