13 research outputs found
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