Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome.

Contains fulltext : 36655.pdf (publisher's version ) (Closed access)The Wolf-Hirschhorn syndrome (WHS (MIM 194190)), which is characterized by growth delay, mental retardation, epilepsy, facial dysmorphisms, and midline fusion defects, shows extensive phenotypic variability. Several of the proposed mutational and epigenetic mechanisms in this and other chromosomal deletion syndromes fail to explain the observed phenotypic variability. To explain the complex phenotype of a patient with WHS and features reminiscent of Wolfram syndrome (WFS (MIM 222300)), we performed extensive clinical evaluation and classical and molecular cytogenetic (GTG banding, FISH and array-CGH) and WFS1 gene mutation analyses. We detected an 8.3 Mb terminal deletion and an adjacent 2.6 Mb inverted duplication in the short arm of chromosome 4, which encompasses a gene associated with WFS (WFS1). In addition, a nonsense mutation in exon 8 of the WFS1 gene was found on the structurally normal chromosome 4. The combination of the 4p deletion with the WFS1 point mutation explains the complex phenotype presented by our patient. This case further illustrates that unmasking of hemizygous recessive mutations by chromosomal deletions represents an additional explanation for the phenotypic variability observed in chromosomal deletion disorders

Tourism and quality of life: How does tourism measure up?

This chapter reviews and analyzes the contribution that tourism development makes to quality-of-life (QOL). The chapter commences with a review of the sociocultural, economic, and environmental effects of tourism development as it relates to QOL. It will be argued that tourism studies have generally relied on observations and measurement by researchers, who have explored residents’ perceived impacts of tourism on their community. In contrast to community-centric impact studies, this chapter is concerned with how economic, social, and environmental impacts of tourism are manifested and how tourism is contributing to QOL and overall life satisfaction. An importance-performance analysis (IPA) is used to achieve this goal. The opinions of experts in tourism development are used as a basis for identifying the importance of 45 attributes of QOL and for assessing how well tourism performs on each. The literature review, analysis, and findings indicate that tourism has the potential to contribute to enhanced QOL through economic benefits, but this can be at the expense of social equity, cultural identity, and environmental sustainability. There is also considerable room for improvement in tourism’s performance with respect to contributing to local communities and provision of leadership and corporate social responsibility as they relate to the key attributes of QOL in tourism destinations. Research propositions emerging from the findings could inform the future direction of inquiry into the complex relationships and interdependencies between tourism, QOL, and the well-being of both tourists and the communities they visit