Table 2 is missing in the XML and PDF versions of the article. Please see Table 2 below.
Table 2. CNVs containing genes with a known association with right ventricular development1 .
Chromosome | Gene | Band | Start2 | Stop2 | Size2 | # in TOF cohort / total in cohort | inheritance | Mills et al 20063 # with CNV / total in cohort | Jiang et al 20133 # With CNV / total in cohort | DGV # With CNV/ total in cohort |
chr20 | JAG1 | p12.2 | 10,653,282 | 10,654,729 | 1,447 | 1del/34 | from mother | 0 / 24 | 2 /32 | |
chr17 | TBX2 | q23.2 | 59,477,025 | 59,479,140 | 2,115 | 3dup,1del/34 | 3 denovo / 1 dup from father | 0 / 24 | 3/ 32 | |
chr18 | GATA6 | q11.2 | 19,749,386 | 19,761,617 | 12,231 | 2del/34 | 1 denovo / 1 from mother | 0 / 24 | 9 / 32 | |
chr9 | NOTCH1, | q33.3 - q34.3 | 130,158,557 | 140,785,695 | 10,267,138 | 2del/34 | 1 denovo / 1 from mother | 10 / 24 | 7 / 32 | |
chr8 | HEY1 | q21.33 | 8,0679,052 | 80,727,908 | 48,856 | 3dup, 4del/34 | 0 /24* | 0 /32** | ||
chr1 | RYR2 | q43 | 237,813,301 | 237,817,763 | 4,462 | 2del/34 | 2/24 | 13 /32 | ||
chr8 | FOXH1 | q24.3 | 142,286,322 | 145,755,059 | 3,468,737 | 2del/34 | 0 /24 | 1 /32 | ||
chr1 | NOTCH2 | p12 - p11.2 | 120,529,652 | 120,612,294 | 82,642 | 2del/34 | 1 / 24 | 0 / 32 | ||
chr16 | SOX8 | p13.3 | 126,558 | 3,790,511 | 3,663,953 | 2del/34 | 2 / 24 | 4/ 32 | ||
chr3 | DVL3 | q27.1 | 183,872,674 | 184,242,147 | 369,473 | 2del/34 | 0 / 24 | 4/32 | ||
chr6 | SOX4 | p22.3 | 21,594,198 | 21,596,935 | 2,737 | 1del/34 | 0 / 24 | 1/32 | ||
chr7 | LFNG | p22.3 | 165,353 | 2,706,165 | 2,540,812 | 1del/34 | 0 / 24 | 9/ 32 | ||
chr8 | CHD7 | q12.1 | 61,582,823 | 61,591,393 | 8570 | 1dup,2del/34 | 0 / 24 | 2/32 | ||
chr14 | NKX2.14 | q13.3 | 36,986,373 | 36,991,296 | 4,923 | 12/34 all deletions | 0 / 24*** | 2 / 32*** | 2/450*** | |
chr3 | CHL14 | p26.3 | 115,283 | 305,668 | 190,385 | 19/34 all deletions | 1 / 24*** | 2/32*** | 1/30[37]*** and 2/450[38]*** | |
chr22 | GSTT14 | q11.23 | 24,236,629 | 24,384,403 | 147,774 | 3 del,22 dup/34 | 0 / 24*** | 2/ 32*** | 21/30[37] and 630/1184[39]*** | |
the genes were identified using the GO terms right ventricle morphogenesis or outflow track morphogenesis
If there is more than one CNV, start, stop and size represent the largest CNV
Mills et al. [30] and Jiang et al.[31] datasets were downloaded and searched for small CNVs (> 100 bp to 10kb) anywhere in the gene or in the 10kb upstream or downstream to include the promoter and 3’ end.
NKX2.1, CHL1 and GSTT1 do not have a direct connection to RV development but were included because of the high frequency of CNVs involving them in our cohort
*, **, ***significant difference p<0.05, 0.01, 0.001
Reference
- 1. Bittel DC, Zhou X-G, Kibiryeva N, Fiedler S, O’Brien JE Jr, et al. (2014) Ultra High-Resolution Gene Centric Genomic Structural Analysis of a Non-Syndromic Congenital Heart Defect, Tetralogy of Fallot. PLoS ONE 9(1): e87472 doi:10.1371/journal.pone.0087472 [DOI] [PMC free article] [PubMed] [Google Scholar]