Table 2 Studies of genome-wide de novo CNV rate in CHD (22q11.2 deletions excluded)a

From: The importance of copy number variation in congenital heart disease

Study

Recruitment site(s)

Case trios (n)

CHD type

Array type(s)

De novo rate per subject b

Hitz et al.40

Canada (QC)

53

Left-sided

Affymetrix Human Genome-Wide SNP Array 6.0 (Santa Clara, CA, USA)

6/53

11.3%

Xie et al.42

South Central China

82

PA

Illumina 660W-Quad & Omni1-Quad BeadChips (San Diego, CA, USA)

12/78

15.4%

Greenway et al.45

USA (Boston), Brazil

114

TOF

Affymetrix Human Genome-Wide SNP Array 6.0

9/112

8.0%

Warburton et al.47

USA (NY)

223

CNT, HLHS

NimbleGen CGH HD2 (Madison, WI, USA)

20/213

9.4%

Soemedi et al.39

UK, Germany, Belgium, Australia

283

TOF

Illumina 660W-Quad

13/283

4.6%

Sanchez-Castro et al.55

France

316

CoA

Agilent 2*400K (Santa Clara, CA, USA, custom-designed)

3/76

3.9%

   

TOF

 

5/81

6.2%

   

TGA

 

0/159

0.0%

Glessner et al.57

USA (various)

538

Variousc

Illumina Omni-1.0 and 2.5Md

47/534

8.8%

  1. Abbreviations: CHD, congenital heart disease; CNT, conotruncal anomalies; CNVs, copy number variations; CoA, coarctation of the aorta; HLHS, hypoplastic left heart syndrome; HTX, heterotaxy; PA, pulmonary atresia; TGA, transposition of the great arteries; TOF, tetralogy of Fallot; VSD, ventricular septal defect.
  2. a Minimum n=50 trios.
  3. b Proportion of unrelated case subjects with at least one de novo CNV, after excluding individuals with 22q11.2 deletions.
  4. c Left-ventricular outflow lesions>CNT>>heterotaxy>other (exact numbers cannot be determined from data provided).
  5. d Also employed whole-exome sequencing for characterisation of CNV.
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