Data Studio

Li Ka Shing Learning Center (LKSC)
Rm 209

DATE: October 4, 2017
TIME: 1:30 - 3:00 pm
TITLE: Transcription signature of Williams syndrome
Tom Collins
Clinical Associate Professor
Pediatrics-Cardiology, Stanford



Williams syndrome (WS) is the result of a deletion of 1.5–1.8 Mb on chromosome 7, involving 26–28 genes.  Its most obvious symptoms include elfin facial features, hypersocial personality, and cognitive impairment (mean IQ of 50–60). This consultation will focus on cardiovascular aspects, particularly narrowing of the arteries (stenosis).  The WS deletion includes the gene ELN, which codes for the protein elastin, and elastin is essential for the elasticity of blood vessels.  The hemizygosity of ELN cannot be the only factor causing stenosis in WS patients, however, because the severity of symptoms is highly variable: 20% have no cardiovascular symptoms while another 20% require surgical intervention, often by the age of 5.  The goal of this project is to use RNA expression data to identify other factors affecting elastin and vascular health.

Suggested readings:

R. Thomas Collins II.  Cardiovascular Disease in Williams Syndrome. Circulation. 2013; 127:2125-2134.

 Barbara R. Pober.  Williams-Beuren Syndrome. N Engl J Med 2010; 362:239-252.