Very rare CNVs overlapping 26 putative candidate genes for tetralogy of Fallot.

Candidate gene, official HGNC symbol; Locus, cytogenetic location of candidate gene; Case, subjects from discovery sample (n = 433) with TOF; CNV start, hg18 (NCBI Build 36.1, March 2006); CNV size, in base pairs; CN, type of copy number aberration; Exonic, CNV overlaps exon of candidate gene (•); Confirmed, by qPCR (•) or not done (ND); CV involvement, known cardiovascular system involvement (•; not necessarily in human); Structural CV phenotype, known structural cardiovascular system phenotype associated with mutation (•; not necessarily in human); References derived from systematic searches of human (e.g., Online Mendelian Inheritance in Man; www.omim.org/) and model organism (e.g., Mouse Genome Informatics; http://www.informatics.jax.org/) databases are presented in Table 5 in Supporting Information S1.
aNovel and previously proposed candidate genes for TOF identified because of overlap with two or more CNVs in unrelated subjects (at least one Caucasian) with TOF, where the CNVs were not observed in 2,773 controls (see text). We have also shown selected candidate genes overlapped by very rare singleton CNVs in our cohort, including all those that overlapped rare CNVs reported by Greenway et al. [12].
bFigure 2 in Supporting Information S1.
cGreenway et al. [12].
dFigure 3 in Supporting Information S1.
eFigure 1.