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PLOS Papers on Autism Transcripts, Invasive Skin Staphylococcus, Recessive Dilated Cardiomyopathy

In PLOS Genetics, researchers from the University of Wisconsin-Madison and the Fred Hutchinson Cancer Research Center report on findings from a transcriptome-focused analysis of autism spectrum disorder (ASD). With the help of a transcriptome-wide association study-specific statistical framework known as TITANS, the team searched for expression quantitative trait loci (QTL) and splicing QTLs coinciding with ASD in a dozen brain tissues, before extending the TWAS approach to more than 7,800 ASD-affected parent-child trios. From the TWAS, the authors saw potential associations involving the transcription factor-coding gene POU3F2 and dozens of other genes assessed in a validation analysis involving nearly 13,100 more ASD cases and almost 22,700 controls and in subsequent genome-wide association meta-analysis, gene set enrichment, and regulatory network analyses. 

A team from Germany and Denmark takes a look at genome features and diversity in Staphylococcus epidermidis populations from individuals with joint prosthetics infected with invasive forms of the human skin microbe. As they write in PLOS Pathogens, the investigators did whole-genome sequencing on almost 200 S. epidermidis samples from 23 individuals with infected joint prostheses, highlighting phenotypic and genetic features linked to infection-related adaptations within individuals — from enhanced growth in lower-than-usual nutrient conditions to mobile genetic elements, mutations, or insertions and deletions with potential ties to the nosocomial infections. "While mobilome associated factors are important for S. epidermidis invasive potential, the species possesses a multi-layered and complex ability for adaptation to hostile environments, supporting the progression to chronic implant-associated infections," they write.

For a paper appearing in PLOS One, investigators in Finland, the US, and Sweden describe rare loss-of-function mutations in the "nebulin-related anchoring protein" gene in a recessively inherited form of familial dilated cardiomyopathy (DCM), a heart condition that is more often inherited in a dominant manner. The team turned to available targeted and exome sequencing data for 31,639 individuals patients referred for genetic testing, including 577 known or suspected DCM cases and more than 5,100 individuals with other cardiac conditions. The search led to 11 unrelated individuals with DCM who either carried two copies of protein-truncating variants affecting NRAP or protein-truncating versions of NRAP combined with missense mutations in the gene. These and other findings "demonstrate significant enrichment of NRAP variants in DCM patients with severe clinical events," the authors conclude, "and their co-segregation in multiple families support an inclusion of NRAP in genetic testing of cardiomyopathies."