Experimental Studies on Williams Syndrome Disease Synthesis Essay

Williams-Beuren syndrome (WBS) or Williams’ syndrome is a neuro-developmental genetic disorder affecting the central nervous system and most connective tissues. WBS is caused by hemizygous deletions within the critical region of chromosome 7q11.23 including the GTF2IRD1 gene (Ewart 11).

Moreover, insufficient levels of the dosage-sensitive genes within the 7q11.23 region have also been implicated in the genesis of WBS. Additionally, reduced levels of elastin, which occurs as a result of deletion of ELN, lead to a prominent feature of WBS known to as supravalvular aortic stenosis (SVAS). Accordingly, human genomic studies show that the GTF2IRD1 and GTF2I genes play a pivotal role in the occurrence of certain features of WBS such as craniofacial dysmorphology, visuospatial deficits, and hypersociability among others (Ewart 12).

In this paper, we are going to review three experimental studies regarding WBS to highlight the major DNA, protein, and phenotypic alterations implicated in this genetic disorder. Here, it is expected that the results of the three experimental studies will point out the major predisposing factors in the development of WBS particularly the gene deletions involving the 7q11.23 critical region.

Method

To identify the most appropriate research materials for this paper, the PubMed internet search engine was used. Therefore, some key words such as Williams’ syndrome, phenotypic alterations, and chromosome 7q11.23 were used to locate scholarly and peer reviewed journal articles published in 2003-2011.