Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.

Pathogenic variants in multiple genes on the X chromosome have been implicated in syndromic and non-syndromic intellectual disability disorders. ZFX on Xp22.11 encodes a transcription factor that has been linked to diverse processes including oncogenesis and development, but germline variants have not been characterized in association with disease. Here, we present clinical and molecular characterization of 18 individuals with germline ZFX variants. Exome or genome sequencing revealed 11 variants in 18 subjects (14 males and 4 females) from 16 unrelated families. Four missense variants were identified in 11 subjects, with seven truncation variants in the remaining individuals. Clinical findings included developmental delay/intellectual disability, behavioral abnormalities, hypotonia, and congenital anomalies. Overlapping and recurrent facial features were identified in all subjects, including thickening and medial broadening of eyebrows, variations in the shape of the face, external eye abnormalities, smooth and/or long philtrum, and ear abnormalities. Hyperparathyroidism was found in four families with missense variants, and enrichment of different tumor types was observed. In molecular studies, DNA-binding domain variants elicited differential expression of a small set of target genes relative to wild-type ZFX in cultured cells, suggesting a gain or loss of transcriptional activity. Additionally, a zebrafish model of ZFX loss displayed an altered behavioral phenotype, providing additional evidence for the functional significance of ZFX. Our clinical and experimental data support that variants in ZFX are associated with an X-linked intellectual disability syndrome characterized by a recurrent facial gestalt, neurocognitive and behavioral abnormalities, and an increased risk for congenital anomalies and hyperparathyroidism.

Selective Wettability Membrane for Continuous Oil-Water Separation and In Situ Visible Light-Driven Photocatalytic Purification of Water.

Membrane-based technologies are attractive for remediating oily wastewater because they are relatively energy-efficient and are applicable to a wide range of industrial effluents. For complete treatment of oily wastewater, removing dissolved contaminants from the water phase is typically followed by adsorption onto an adsorbent, which complicates the process. Here, an in-air superhydrophilic and underwater superoleophobic membrane-based continuous separation of surfactant-stabilized oil-in-water emulsions and in situ decontamination of water by visible-light-driven photocatalytic degradation of dissolved organic contaminants is reported. The membrane is fabricated by utilizing a thermally sensitized stainless steel mesh coated with visible light absorbing iron-doped titania nanoparticles. Post annealing of the membrane can enhance the adhesion of nanoparticles to the membrane surface by formation of a bridge between them. An apparatus that enables continuous separation of surfactant-stabilized oil-in-water emulsion and in situ photocatalytic degradation of dissolved organic matter in the water-rich permeate upon irradiation of visible light on the membrane surface with greater than 99% photocatalytic degradation is developed. The membrane demonstrates the recovery of its intrinsic water-rich permeate flux upon continuous irradiation of light after being contaminated with oil. Finally, continuous oil-water separation and in situ water decontamination is demonstrated by photocatalytically degrading model toxins in water-rich permeate.

A bean epicuticular glycoprotein is present in the extracellular matrices around infection structures of the anthracnose fungus, Colletotrichum lindemuthianum.

Monoclonal antibodies were raised to Colletotrichum lindemuthianum (Sacc. & Magn.) Briosi & Cav. infection structures which had been isolated from leaves of Phaseolus vulgaris L. by isopycnic centrifugation and immunomagnetic separation. One of the antibodies, UB29, recognized a carbohydrate epitope in a 200 kDa glycoprotein present on the surface of conidia, germ-tubes and appressoria when they developed on host tissue. Intracellular hyphae were not labelled. Immunogold labelling showed that the antigen was confined to the extracellular matrices around such structures. No such antigen was detected by immunofluorescence or Western blotting when the fungus developed in vitro. UB29 recognized a glycoprotein of identical Mr located in the epicuticular wax layer of uninoculated bean hypocotyls. The results suggest that a host epicuticular glycoprotein is present in the extracellular matrices of fungal structures during growth on the plant surface.