Seroprevalence of hantaviruses and Leptospira in muskrat and coypu trappers in the Netherlands, 2016.

Aims: Seoul orthohantavirus (SEOV) and Leptospira spp. are zoonotic pathogens with rats as main reservoir. Recently, the presence of SEOV in brown rats was reported in one region in the Netherlands. Brown rats are a frequent bycatch in traps placed to catch muskrats (Ondatra zibethicus) and coypus (Myocastor coypus), and thus are a potential health risk for trappers. It was our aim to determine the seroprevalence of orthohantavirus, specifically SEOV, and Leptospira spp in Dutch trappers. Methods and results: Participating trappers provided serum samples and completed an online questionnaire. The serum was tested for the presence of antibodies against six orthohantaviruses and eight Leptospira serovars. Two hundred-sixty trappers completed the online questionnaire (65%), and 246 (61%) and 162 (40%) serum samples were tested for relevant orthohantaviruses and Leptospira spp., respectively. The seroprevalence of Puumala orthohantavirus in Dutch trappers was 0.4% (95% CI: 0.1-2.3%). None of the participants tested positive for SEOV. The seroprevalence of leptospirosis was 1.2% (95% CI: 0.3-4.4%), although Leptospira spp. are present in brown rats in the Netherlands.Significance of study: The results indicate that the infections with orthohantaviruses and leptospires is low for muskrat and coypu trappers

Seroprevalence of hantaviruses and Leptospira in muskrat and coypu trappers in the Netherlands, 2016

Aims: Seoul orthohantavirus (SEOV) and Leptospira spp. are zoonotic pathogens with rats as main reservoir. Recently, the presence of SEOV in brown rats was reported in one region in the Netherlands. Brown rats are a frequent bycatch in traps placed to catch muskrats (Ondatra zibethicus) and coypus (Myocastor coypus), and thus are a potential health risk for trappers. It was our aim to determine the seroprevalence of orthohantavirus, specifically SEOV, and Leptospira spp in Dutch trappers. Methods and results: Participating trappers provided serum samples and completed an online questionnaire. The serum was tested for the presence of antibodies against six orthohantaviruses and eight Leptospira serovars. Two hundred-sixty trappers completed the online questionnaire (65%), and 246 (61%) and 162 (40%) serum samples were tested for relevant orthohantaviruses and Leptospira spp., respectively. The seroprevalence of Puumala orthohantavirus in Dutch trappers was 0.4% (95% CI: 0.1–2.3%). None of the participants tested positive for SEOV. The seroprevalence of leptospirosis was 1.2% (95% CI: 0.3–4.4%), although Leptospira spp. are present in brown rats in the Netherlands.Significance of study: The results indicate that the infections with orthohantaviruses and leptospires is low for muskrat and coypu trappers

Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis

Motor neuron degeneration in amyotrophic lateral sclerosis (ALS) has a familial cause in 10% of patients. Despite significant advances in the genetics of the disease, many families remain unexplained. We performed whole-genome sequencing in five family members from a pedigree with autosomal-dominant classical ALS. A family-based elimination approach was used to identify novel coding variants segregating with the disease. This list of variants was effectively shortened by genotyping these variants in 2 additional unaffected family members and 1500 unrelated population-specific controls. A novel rare coding variant in SPAG8 on chromosome 9p13.3 segregated with the disease and was not observed in controls. Mutations in SPAG8 were not encountered in 34 other unexplained ALS pedigrees, including 1 with linkage to chromosome 9p13.2–23.3. The shared haplotype containing the SPAG8 variant in this small pedigree was 22.7 Mb and overlapped with the core 9p21 linkage locus for ALS and frontotemporal dementia. Based on differences in coverage depth of known variable tandem repeat regions between affected and non-affected family members, the shared haplotype was found to contain an expanded hexanucleotide (GGGGCC)n repeat in C9orf72 in the affected members. Our results demonstrate that rare coding variants identified by whole-genome sequencing can tag a shared haplotype containing a non-coding pathogenic mutation and that changes in coverage depth can be used to reveal tandem repeat expansions. It also confirms (GGGGCC)n repeat expansions in C9orf72 as a cause of familial ALS