SMARCC1 is a susceptibility gene for congenital hydrocephalus with an autosomal dominant inheritance mode and incomplete penetrance

A Jewish couple of mixed origin was referred for genetic counseling following termination of pregnancy at 18 weeks of gestation due to severe ventriculomegaly with aqueduct stenosis. Trio exome sequencing revealed a loss-of-function heterozygous variant in the SMARCC1 gene inherited from an unaffected mother. The SMARCC1 gene is associated with embryonic neurodevelopmental processes. Recent studies have linked perturbations of the gene with autosomal dominant congenital hydrocephalus, albeit with reduced penetrance. However, these studies were not referenced in the SMARCC1 OMIM record (*601732) and the gene was not considered, at the time, an OMIM morbid gene. Following our case and appeal, SMARCC1 is now considered a susceptibility gene for hydrocephalus. This allowed us to reclassify the variant as likely pathogenic and empowered the couple to make informed reproductive choices.     

Outcome of prenatally diagnosed trisomy 6 mosaicism

We report the prenatal diagnosis of trisomy 6 mosaicism via amniocentesis, in which trisomy 6 cells were identified in three of five culture vessels with 33% (5/15) of colonies showing trisomic cells. The pregnancy was electively terminated and examination revealed minor abnormalities (shortening of the femurs, micrognathia, posterior malrotation of the ears, and bilateral camptomelia of the second digit of the hands and fifth digits of the feet). Cytogenetic analysis of the placenta showed trisomy 6 in 100% of 20 cells studied. Karyotype was 46,XX in 100 cells examined from fetal skin. There are relatively few prenatally diagnosed cases of mosaic trisomy 6 at amniocentesis. Confined placental mosaicism (CPM) has been postulated in other cases where follow-up cytogenetic studies were not available. The present case differs from those previously reported, as it appears to represent CPM of chromosome 6 with phenotypic effects to the fetus. Copyright © 2002 John Wiley & Sons, Ltd.     

The relationship between demographic/educational parameters and perceptions,knowledge and earthquake mitigation in Israel

Perceptions, knowledge and mitigation are factors that might play a role in preventing injury and loss of life during a major earthquake.² Little is known about the relationships between different demographic and educational parameters and these factors. A national representative sample of 495 adults was investigated in order to determine the relationship between demographic and educational parameters in terms of the perceived threat, perceived coping, knowledge and mitigation of earthquakes in Israel. Compared to females, males perceived the threat of earthquakes to be lower (t=3.183, p=0.002), manifested higher levels of perceived coping (t=2.55, p=0.011), and had higher levels of earthquake related knowledge (t=2.047, p=0.041). We conclude that there are gender differences in perceptions and knowledge regarding earthquakes.     

Contaminant geochemistry—a new perspective

To date, the field of contaminant geochemistry—which deals with the study of chemical interactions in soil and aquifer environments—has focused mainly on pollutant toxicity, retention, persistence, and transport and/or on remediation of contaminated sites. Alteration of subsurface physicochemical properties by anthropogenic chemicals, which reach the land surface as a result of human activity, has been essentially neglected. Contaminant-induced changes in subsurface properties are usually considered as deviations from a normal geological environment, which will disappear under natural attenuation or following remediation procedures. However, contaminants may in many cases cause irreversible changes in both structure and properties of the soil–subsurface geosystem between the land surface and groundwater. The time scales associated with these changes are on a “human time scale”, far shorter than geological scales relevant for geochemical processes. In this review, we draw attention to a new perspective of contaminant geochemistry, namely, irreversible changes in the subsurface as a result of anthropogenic chemical pollution. We begin by briefly reviewing processes governing contaminant–subsurface interactions. We then survey how chemical contamination causes irreversible changes in subsurface structure and properties. The magnitude of the anthropogenic impact on the soil and subsurface is linked directly to the amounts of chemical contaminants applied and/or disposed of on the land surface. This particular aspect is of major importance when examining the effects of humans on global environmental changes. Consideration of these phenomena opens new perspectives for the field of contaminant geochemistry and for research of human impacts on the soil and subsurface regimes.