In PLOS Genetics, researchers from Israel, the US, and elsewhere describe PIK3C2A, a phosphoinositide 3-kinase enzyme-coding gene, mutations behind a rare syndrome marked by cataracts, secondary glaucoma, short stature, and other unusual facial and skeletal features. The team did exome sequencing on members of three consanguineous families with affected children who had similar symptoms, uncovering homozygous loss-of-function PIK3C2A mutations that led to cilia alterations and declining cell proliferation in subsequent fibroblast cell line experiments. "Collectively," the study's authors say, "the genetic and molecular data implicate mutations in PIK3C2A in a new Mendelian disorder of [phosphatidylinositol] metabolism, thereby shedding light on the critical role of a class II PI3K in growth, vision, skeletal formation, and neurological development."
A team from Namibia, Canada, Singapore, and Switzerland profiles Plasmodium species present in northern Namibia for a PLOS Neglected Tropical Diseases paper. With the help of nested and quantitative PCR, the researchers did a molecular search for the malaria-causing parasites such as P. falciparum, P. vivax, and P. ovale in blood samples from 952 children in seven districts in northern Namibia. Their data pointed to 41 children with P. falciparum infections, eight P. vivax infections, and three cases of P. ovale infection. Even so, the authors note that more than 63 percent of children with PCR-detected Plasmodium DNA in their blood did not have malaria symptoms. "[T]he higher number of asymptomatic infections present challenges to the efforts at elimination for the country," they write.
Propionibacterium acnes microbes may turn up at higher-than-usual levels in follicles from miniaturized scalp hair sites in men with androgenetic alopecia hair loss, according to a paper in PLOS One. Researchers in Singapore used 16S ribosomal RNA sequencing to profile microbe community members in punch biopsy-extracted hair follicles from different hair loss sites in 20 Asian men with androgenic alopecia, comparing them with hair follicle microbes from 10 unaffected volunteers from the same population. Along with a rise in P. acnes in parts of the hair follicle in miniaturized hair follicles, the authors describe addition microbial differences in distinct hair follicle regions. "Burkholderia genera predominates the middle portion, while higher microbial diversity was observed in the lower portion," they write.