Delong Liu, Charles J Billington, Neelam Raja, Zoe C Wong, Mark D Levin, Wulfgang Resch, Camille Alba, Daniel N Hupalo, Elisa Biamino, Maria Francesca Bedeschi, Maria Cristina Digilio, Gabriella Maria Squeo, Roberta Villa, Pheobe C R Parrish, Russell H Knutsen, Sharon Osgood, Joy A Freeman, Clifton L Dalgard, Giuseppe Merla, Barbara R Pober, Carolyn B Mervis, Amy E Roberts, Colleen A Morris, Lucy R Osborne, Beth A Kozel
BACKGROUND: Supravalvar aortic stenosis (SVAS) is a characteristic feature of Williams-Beuren syndrome (WBS). Its severity varies: ~20% of people with Williams-Beuren syndrome have SVAS requiring surgical intervention, whereas ~35% have no appreciable SVAS. The remaining individuals have SVAS of intermediate severity. Little is known about genetic modifiers that contribute to this variability. METHODS AND RESULTS: We performed genome sequencing on 473 individuals with Williams-Beuren syndrome and developed strategies for modifier discovery in this rare disease population...
January 31, 2024: Journal of the American Heart Association