Clin. Genet.

Axenfeld–Rieger syndrome (ARS) is a genetically heterogeneous autosomal dominant disorder mainly characterized by developmental defects of the anterior segment and extraocular anomalies. ARS shows great clinical variability and encompasses several conditions with overlapping phenotypes, including Rieger syndrome (RS). RS is characterized by developmental defects of the eyes, teeth and umbilicus, and the main causative gene is PITX2 (paired-like homeodomain transcription factor 2, or RIEG1) at 4q25. PITX2 mutations show great variety, from point mutations to microscopic or submicroscopic deletions, and apparently balanced translocations in few cases. We identified cytogenetically undetectable submicroscopic deletions at 4q25 in two unrelated patients diagnosed with RS. One patient had a t(4;17)(q25;q22)dn translocation with a deletion at the 4q breakpoint, and the other patient had an interstitial deletion of 4q25. Both deletions included only the PITX2 and ENPEP (glutamyl aminopeptidase) genes

Clin Genet

Mowat–Wilson syndrome (MWS) is an autosomal dominant developmental disorder with mental retardation and variable multiple congenital abnormalities due to mutations of the ZEB2 (ZFHX1B) gene at 2q22. MWS was first described in 1998 and the causative gene was delineated in 2001. Since then, 115 different mutations of ZEB2 have been published in association with this syndrome in 161 individuals. However, recent reports suggest that due to the variability of the congenital abnormalities, this syndrome may still be underdiagnosed. We report two unrelated patients with MWS where the clinical diagnosis was established only after finding of disruption of the ZEB2 gene by a balanced translocation breakpoint and an interstitial microdeletion, respectively

Toxic effects of molluscicidal baits to the terrestrial isopod Porcellionides pruinosus (Brandt, 1833)

Purpose Methiocarb and metaldehyde are the most common molluscicides applied in agricultural and horticultural fields in Portugal and elsewhere in Europe. The application of molluscicidal baits to control slug and snail populations can pose a threat to non-target organisms like terrestrial isopods, because they are detritivorous and may feed on the toxic baits applied to the soil surface. The aim of this work was to evaluate the effects and understand the modes of action of these molluscicides to terrestrial isopods. Materials and methods In this study, the terrestrial isopod Porcellionides pruinosus was exposed to these two molluscicides, and the time to lethality was evaluated. Biochemical indicators (biomarkers) are known to provide early warning signs of environmental pollution or stress conditions to the organisms, by measuring cellular or molecular responses of the target organism to xenobiotic agents. Therefore, to evaluate modes of action and effects and also to see if biomarkers can be used as early warning tools in molluscicidal exposures, three different enzymes, glutathione S-transferase (GST), acetylcholinesterase (AChE) and catalase (CAT), were analysed upon single exposures and binary mixtures tests. Results and discussion These two molluscicides showed to be of extreme concern regarding terrestrial isopods, as all animals died after 24 h of exposure to methiocarb, and only 20% survived after 56 h of exposure to metaldehyde. Results indicate that the carbamate methiocarb inhibited significantly AChE activity, but no effects were observed in CAT and GST levels. The exposure to metaldehyde had no effects on AChE, but a decrease in GST activity as well as a general increase in CAT activity was observed at the higher exposure period tested (32 h). The combined exposure of the two molluscicides resulted in a general decrease in AChE and CAT activity, but no visible effects were observed in terms of GST activity. Conclusions The LT50 values found in the single exposures to both molluscicides were very low, especially in the case of the carbamate methiocarb. The use of several biomarkers was a suitable tool to understand the mode of action of these two molluscicides in this isopod species

Axenfeld–Rieger syndrome and spectrum of PITX2 and FOXC1 mutations

Axenfeld–Rieger syndrome (ARS) is a rare autosomal dominant disorder, which encompasses a range of congential malformations affecting the anterior segment of the eye. ARS shows genetic heterogeneity and mutations of the two genes, PITX2 and FOXC1, are known to be associated with the pathogenesis. There are several excellent reviews dealing with the complexity of the phenotype and genotype of ARS. In this study, we will attempt to give a brief review of the clinical features and the relevant diagnostic approaches, together with a detailed review of published PITX2 and FOXC1 mutations

Effects of Essential Oils from Eucalyptus globulus Leaves on Soil Organisms Involved in Leaf Degradation

The replacement of native Portuguese forests by Eucalyptus globulus is often associated with deleterious effects on terrestrial and aquatic communities. Several studies have suggested that such a phenomenon is linked with the leaf essential oils released into the environment during the Eucalyptus leaf degradation process. However, to date, the way these compounds affect leaf degradation in terrestrial systems i.e. by direct toxic effects to soil invertebrates or indirectly by affecting food of soil fauna, is still unknown. In order to explore this question, the effect of essential oils extracted from E. globulus leaves on terrestrial systems was investigated. Fungal growth tests with species known as leaf colonizers (Mucor hiemalis, Alternaria alternata, Penicillium sp., Penicillium glabrum and Fusarium roseum) were performed to evaluate the antifungal effect of essential oils. In addition, a reproduction test with the collembolans Folsomia candida was done using a gradient of eucalyptus essential oils in artificial soil. The influence of essential oils on feeding behaviour of F. candida and the isopods Porcellio dilatatus was also investigated through food avoidance and consumption tests. Eucalyptus essential oils were lethal at concentrations between 2.5–20 µL/mL and inhibited growth of all fungal species between 1.25–5 µL/mL. The collembolan reproduction EC(50) value was 35.0 (28.6–41.2) mg/kg and both collembola and isopods preferred leaves without oils. Results suggested that the effect of essential oils in leaf processing is related to direct toxic effects on fungi and soil fauna and to indirect effects on the quality and availability of food to soil invertebrates