In PLOS Genetics, researchers from the UK, the Netherlands, and elsewhere describe a non-synonymous variant in the NFLXL1 gene that appears to contribute to a language condition called specific language impairment (SLI) that's particularly common in an admixed founder population on Chile's Robinson Crusoe Island. The team tracked down suspicious variants in NFLXL1 and eight other genes by exome sequencing on five related individuals from the population, all affected by SLI. After genotyping the variants in 111 more Robinson Crusoe islanders with or without SLI and teasing out harmless variants acquired through common ancestry, the study's authors were left with the rare NFXL1 variant, which had a minor allele frequency of just over 4 percent in the island's admixed founder population. Heterozygous variants in the same gene turned up in four of 117 SLI cases from the UK.
Expression levels of nearly three dozen genes appear to vary alongside measures of blood pressure, according to another PLOS Genetics study. As reported by GenomeWeb, researchers performed a meta-analysis using array-based expression profiles for more than 7,000 individuals from Europe or the US with known systolic blood pressure, diastolic blood pressure, BMI, and other measurements. In the process, they found 34 transcripts showing enhanced or diminished blood expression with rising blood pressure — a collection that included genes from inflammatory response and apoptosis pathways.
A PLOS Neglected Tropical Diseases study describes two previously unknown rhabdoviruses found through next-generation sequencing on blood samples from apparently healthy individuals in West Africa. Researchers from the US, Nigeria, and Australia uncovered "Ekpoma virus-1" and "Ekpoma virus-2" as part of a high-throughput RNA sequencing study aimed at identifying viruses in blood samples from hundreds of West African individuals with or without mysterious fever conditions. From antibody profiles present in blood samples from another 457 individual living in the area, the team suspects that exposure to the new viruses may be relatively common in the region. GenomeWeb has more on the work, here.