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Exome sequencing of 103 Williams syndrome cases rules out variation in the remaining elastin allele and the larger Williams critical region as a major contributor to variance in blood pressure and arterial stenosis

Wednesday, September 13, 2017 — Poster Session II

3:30 p.m. – 5:00 p.m.
FAES Terrace
NHLBI
GEN-15

Authors

  • PCR Parrish
  • M Lugo
  • N Kopp
  • K Shields
  • YP Fu
  • RH Knutsen
  • M Pirooznia
  • BA Kozel

Abstract

Elastin (ELN) is an extracellular matrix protein that allows tissues to stretch and recoil. Williams syndrome (WS) is a disease of elastin insufficiency caused by the deletion of 26-28 genes including ELN at the 7q11.23 locus. Patients with WS frequently suffer from hypertension and focal stenoses including supravalvular aortic stenosis (SVAS). However, phenotype severity varies widely among affected individuals. Possible sources of this variation include changes in the remaining ELN allele which impact the residual quantity or quality of elastin deposited and mutations elsewhere in the genome that could influence vascular disease. To assess for differences in human patients, vascular phenotypes were obtained from a review of medical records from 103 WS subjects. Whole-exome sequencing was performed and common (MAF =10%) and rare (MAF

Category: Genetics and Genomics