Ontology highlight
ABSTRACT:
SUBMITTER: Greenway SC
PROVIDER: S-EPMC2747103 | biostudies-literature | 2009 Aug
REPOSITORIES: biostudies-literature
Greenway Steven C SC Pereira Alexandre C AC Lin Jennifer C JC DePalma Steven R SR Israel Samuel J SJ Mesquita Sonia M SM Ergul Emel E Conta Jessie H JH Korn Joshua M JM McCarroll Steven A SA Gorham Joshua M JM Gabriel Stacey S Altshuler David M DM Quintanilla-Dieck Maria de Lourdes Mde L Artunduaga Maria Alexandra MA Eavey Roland D RD Plenge Robert M RM Shadick Nancy A NA Weinblatt Michael E ME De Jager Philip L PL Hafler David A DA Breitbart Roger E RE Seidman Jonathan G JG Seidman Christine E CE
Nature genetics 20090713 8
Tetralogy of Fallot (TOF), the most common severe congenital heart malformation, occurs sporadically, without other anomaly, and from unknown cause in 70% of cases. Through a genome-wide survey of 114 subjects with TOF and their unaffected parents, we identified 11 de novo copy number variants (CNVs) that were absent or extremely rare (<0.1%) in 2,265 controls. We then examined a second, independent TOF cohort (n = 398) for additional CNVs at these loci. We identified CNVs at chromosome 1q21.1 i ...[more]