Molecular Characterization of NRXN1 Deletions from 19,263 Clinical Microarray Cases Identifies Exons Important for Neurodevelopmental Disease Expression

PURPOSE: The purpose of the current study was to assess the penetrance of NRXN1 deletions. METHODS: We compared the prevalence and genomic extent of NRXN1 deletions identified among 19,263 clinically referred cases to that of 15,264 controls. The burden of additional clinically relevant copy-number variations (CNVs) was used as a proxy to estimate the relative penetrance of NRXN1 deletions. RESULTS: We identified 41 (0.21%) previously unreported exonic NRXN1 deletions ascertained for developmental delay/intellectual disability that were significantly greater than in controls (odds ratio (OR) = 8.14; 95% confidence interval (CI): 2.91-22.72; P \u3c 0.0001). Ten (22.7%) of these had a second clinically relevant CNV. Subjects with a deletion near the 3\u27 end of NRXN1 were significantly more likely to have a second rare CNV than subjects with a 5\u27 NRXN1 deletion (OR = 7.47; 95% CI: 2.36-23.61; P = 0.0006). The prevalence of intronic NRXN1 deletions was not statistically different between cases and controls (P = 0.618). The majority (63.2%) of intronic NRXN1 deletion cases had a second rare CNV at a prevalence twice as high as that for exonic NRXN1 deletion cases (P = 0.0035). CONCLUSIONS: The results support the importance of exons near the 5\u27 end of NRXN1 in the expression of neurodevelopmental disorders. Intronic NRXN1 deletions do not appear to substantially increase the risk for clinical phenotypes.Genet Med 19 1, 53-61

'Perceived benefits of littoral wetlands in Uganda: a focus on the Nabugabo wetlands

Wetlands, commonly called swamps in Uganda, are estimated to cover about 13% of the total land surface area (about 30,000 km2) of the country and represent a considerable ecological, social and economic value. In 1989, the Ugandan government formerly recognised that wetlands need to be conserved and contribute considerably to the National economy and rural livelihood. The present analysis is focused on the Nabugabo wetland ecosystem. Located in Central Uganda, it is an important part of the extensive system of wetlands that surround Lake Victoria. The Nabugabo wetland is a source of important resources that are basic to the local economy, including fishing, water utilization, agriculture, livestock, wetland plants for construction and more recently, tourism. Investment in the area is low and a large percentage of the local community depends on the wetland resources for basic sustenance needs. After achieving Ramsar status, demarcation and conservation activities were initiated by the local and national leaders. However, these conservation efforts have provoked conflicts between the land owners and the policy makers, in particular to the demarcation of areas for conservation In the present analysis, we examine the benefits, perceived by local leaders and community members, of the wetland and its services, as well as views towards its conservation and management. The results show that differences between the community leaders and member exist regarding the perceived benefits of the wetlands. Tourism, while providing some opportunities for local persons is not always viewed positively. Conservation activities are viewed positively but some questions remain as to whether such efforts help or hinder the local population, in particular regarding access to basic resources

Monitoring the resilience of rivers as social-ecological systems: a paradigm shift for river assessment in the twenty-first century

Rivers have an important role in the development and continued prosperity of many countries through, inter alia, the ecosystem services they provide. Two concepts have captured the attention of natural resource managers enthusiastic to embrace linked human-environmental dimensions of social-ecological systems: resilience thinking and ecosystem services. This chapter argues that advancing national interests in river ecosystem sustainability in the twenty-first century will require river assessment programmes to pay greater attention to the linkages between social factors and the condition of biophysical elements of river ecosystems. It briefly describes the development of the major, biophysically-focused contemporary river assessment and monitoring approaches. The chapter then assesses the utility of biophysical parameters for assessing rivers as social-ecological systems. Finally, it develops a framework describing how the social and ecological components of river ecosystems can be included in river assessment programmes, based on principles of resilience thinking and strategic adaptive management