RAPGEF6 is a member of the guanine nucleotide exchange factor (GEF) subfamily that acts on Rap small GTPases and contains a Ras/Rap-associating domain. Although deficiency of this gene has previously been linked to schizophrenia, no MIM phenotype entry currently associates RAPGEF6 with a defined clinical condition. In this study, trio-based whole-exome sequencing (WES) was performed in an individual presenting with psychiatric...

Autism spectrum disorder (ASD) is a long-known complex neurodevelopmental disorder, and over the past decades, with the enhancement of the research genomic techniques, has been the object of intensive research activity, and many genes involved in the development and functioning of the central nervous system have been related to ASD genesis. Herein, we report a patient with severe ASD carrying a G > A de novo variant in the FGF...

Global warming and air pollution affect the transmission pathway and the survival of viruses, altering the human immune system as well. The first wave of the COVID-19 pandemic dramatically highlights the key roles of climate and air chemistry in viral epidemics. The elongated form of the Italian peninsula and the two major islands (the largest in Europe) is a perfect case study to assess some of these key roles, as the fate of...