Pathogenic variations in the SLC9A6 gene are associated with an X-linked disorder Christianson syndrome characterized by developmental delay, microcephaly, intellectual disability, autistic-like behavior and epilepsy. We identified a novel pathogenic variation in the SLC9A6 gene in a boy with developmental delay and microcephaly. Herein we report the clinical findings of the case diagnosed as Christianson syndrome; his mother was found to carry the same variant.

Salt stress is one of the major abiotic stresses that negatively affect crops worldwide. Plants have evolved a series of mechanisms to cope with the limitations imposed by salinity. Molecular mechanisms, including the upregulation of cation transporters such as the Na+/H+ antiporters, are one of the processes adopted by plants to survive in saline environments. NHX antiporters are involved in salt tolerance, development, cell expansion, growth performance and disease resistance of plants. They are integral membrane proteins belonging to the widely distributed CPA1 sub-group of monovalent cation/H+ antiporters and provide an important strategy for ionic homeostasis in plants under saline conditions. These antiporters are known to regulate the exchange of sodium and hydrogen ions across the membrane and are ubiquitous to all eukaryotic organisms. With the genomic approach, previous studies reported that a large number of proteins encoding Na+/H+ antiporter genes have been identified in many plant species and successfully introduced into desired species to create transgenic crops with enhanced tolerance to multiple stresses. In this review, we focus on plant antiporters and all the aspects from their structure, classification, function to their in silico analysis. On the other hand, we performed a genome-wide search to identify the predicted NHX genes in Argania spinosa L. We highlighted for the first time the presence of four putative NHX (AsNHX1-4) from the Argan tree genome, whose phylogenetic analysis revealed their classification in one distinct vacuolar cluster. The essential information of the four putative NHXs, such as gene structure, subcellular localization and transmembrane domains was analyzed.

Christianson syndrome (OMIM 300243), caused by mutations in the X-linked SLC9A6 gene, is characterized by severe global developmental delay and intellectual disability, developmental regression, epilepsy, microcephaly and impaired ocular movements. It shares many common features with Angelman syndrome. Carrier females have been described as having learning difficulties with mild to moderate intellectual disability, behavioural issues and psychiatric illnesses. There is little literature on the carrier female phenotype of Christianson syndrome. We describe a large extended family with three affected males, four carrier females, one presumed carrier female and one obligate carrier female with a c.190G>T, p.E64X mutation known to cause a premature stop codon in SLC9A6. We characterize and expand the clinical phenotype of female SLC9A6 mutation carriers by comparing our described family with female carriers previously discussed in the literature. In particular, we highlight the neurodevelopmental and psychiatric phenotypes observed in our family and previous reports.

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Transient peaks of the cytoplasmic pH are essential elements in a number of signal cascades that activate environmental responses or developmental processes in plant cells but little is known about the mechanisms of their generation. In many plant cells, elicitation of the hypersensitive response is preceded by a perturbation of the ionic balance at the plasma membrane including the inhibition of the proton pump and the influx of H+ from the apoplast. A basically different mechanism of cytoplasmic acidification that is fed by vacuolar protons has been discovered in cell suspensions of the California Poppy (Eschscholzia californica). These cells react to a yeast glycoprotein elicitor with the overproduction of benzophenanthridine alkaloids. Low elicitor concentrations trigger the biosynthesis of these phytoalexins without invoking elements of the hypersensitive response. Accumulated data support the existence of a signal path that includes the following steps: Links between the above events that connect them within a distinct signal path are substantiated by the phenotypes of transformed cell lines that either display lowered Galpha levels due to antisense transformation or express Galpha-binding antibodies in the cytoplasm. All of these cell lines lack the elicitor-activation of PLA2 and of vacuolar proton fluxes and show an impaired phytoalexin response to low elicitor concentrations. High elicitor concentrations trigger alkaloid biosynthesis via an increase of jasmonate at a pH-independent signal path.

Drug and multidrug resistance have greatly compromised the compounds that were once the mainstays of antibiotic therapy. This resistance often persists despite reductions in the use of antibiotics, indicating that the proteins encoded by antibiotic-resistance genes have alternative physiological roles that can foster such persistence in the absence of selective pressure by antibiotics. The recent observations that Tet(L), a tetracycline-efflux transporter, and MdfA, a multidrug-efflux transporter, both confer alkali tolerance offer a striking case study in support of this hypothesis.