Skip to main content

Table 1 Summary of rare CNVs identified in CHD patients include genes

From: Genome-wide copy number variant analysis for congenital ventricular septal defects in Chinese Han population

sample ID

Gender

age

Cytoband

Chromosome Region

Event

Interval(kb)

Count of Gene

Major candidate genesa

CHD phenotype

DECIPHER/ISCA/OMIM (no. of clinical features)a

NA012

F

1y8m

6p12.1

Chr6:55,823,840-55,949,133

Gain

125

1

BMP5

VSD

/

NA027

M

1y3m

2q35

Chr2:216,757,058-216,797,948

Gain

41

1

XRCC5

VSD

/

NA067

M

7 m

4q12

Chr4:57,627,423-57,940,932

Gain

314

2

IGFBP7, LOC255130

VSD

/

NA068

F

5y5 m

16q22.1

chr16:67,868,480-68,086,257

Loss

218

8

COG8, CYB5B, NIP7, PDF, SNTB2, TERF2, TMED6, VPS4A

TGA

VSD (20)

NA079

F

3y1m

10q24.31-q24.32

Chr10:102,953,588-103,040,185

Gain

87

2

LBX1

VSD

VSD (10)

NA008

F

2y8m

3q12.1- q12.2

Chr3:101,403,767-101,519,268

Gain

116

1

TBC1D23

VSD

/

NA082

F

3y1m

3p22.2

Chr3:37377757-37577933

Gain

201

3

GOLGA4, C3ORF35, ITGA9

ASD

/

   

3q26.33-29

Chr3:180469228-198475603

Gain

18006

234

SOX2, MAP3K13, BCL6, TP63, FGF12

ASD

/

   

4q34.3-q35.2

Chr4:181,026,511-190,784,769

Loss

9694

76

CASP3, ING2, PDLIM3, SLC25A4, F11

ASD

VSD (5)

NA084

F

1y2m

2q36.1

Chr2:222,835,872-223,511,548

Gain

676

6

PAX3

VSD

/

NA252

M

4 m

Xq13.3

ChrX:73900661-74462483

Gain

562

2

KIAA2022,ABCB7

VSD

/

   

Xq21.1

ChrX:77,425,233-78,428,001

Loss

1003

11

CYSLTR1, GPR174, LPAR4, P2RY10

VSD

/

NA380

F

4y7m

16p13.11

Chr16:15,406,764-16,170,797

Gain

764

9

MYH11, NDE1

VSD

ASD (15), ASD (3)

NA423

M

5 m

16q24.1

Chr16:16,574,972-28,505,961

Loss

100

2

ATP2C2, WFDC1

VSD

/

NB1264

M

27d

4p16.1

Chr4:8,270,586-8,498,212

Loss

228

4

ACOX3, C4orf23, HTRA3, SH3TC1

VSD,ASD

/

NB245

M

1 m

16p13.11 - p11.2

Chr16:16,574,972-28,505,961

Gain

11931

135

CACNG3, CHP2, PLK1, PRKCB, XYLT1

VSD,ASD

ASD (15)

NB887

F

4 m

Xq22.1

ChrX:100,039,582-100,068,017

Gain

28

1

XKRX

VSD,ASD,PDA,PH

/

NB910

M

11d

13q13.3

Chr13:35,777,130-35,835,221

Gain

58

1

NBEA

VSD,PDA,PFO

/

   

Xq27.2

ChrX:140,727,218-141,583,235

Gain

856

3

MAGEC1, MAGEC2, MAGEC3

VSD,PDA,PFO

/

NC15

M

5y

20p12.1

Chr20:16,574,972-28,505,961

Gain

120

1

KIF16B

VSD

ASD,VSD (15)

NC27

F

4y

15q13.1

Chr15:25,833,244-25,871,572

Loss

38

1

OCA2

VSD

/

NC28

M

3y

15q26.2

Chr15:92,616,792-92,673,355

Loss

57

1

MCTP2

VSD

AVSD, CHD (4), ASD

NS176

M

7y1m

7p14.2

Chr7:36657642-36756092

Gain

118

1

AOAH

VSD

ASD,VSD

  

7y1m

14q32.12

Chr14:91069401-91230897

Gain

160

2

C14orf184, CATSPERB

VSD

ASD

NS480

M

4y

1q31.2

Chr1:190,543,305-190,707,353

Gain

164

1

RGS21

VSD

ASD (35)

NS494

M

2 m

2q14.2

Chr2:119,275,149-119,375,870

Gain

101

1

EN1

VSD,PFO,PH

ASD (5)

NS548

M

3y

7q11.22

Chr7:70,953,860-71,032,938

Loss

79

1

CALN1

VSD

VSD (15)

NS584

F

8 m

9q21.32

Chr9:84,859,691-85,387,778

Loss

528

2

FRMD3, RASEF

ASD,PS

/

NS659

F

12y5 m

7q31.32

Chr7:121,449,591-122,397,323

Gain

948

7

AASS, CADPS2, FEZF1, PTPRZ1

VSD

/

NS667

F

1y9m

21q22.3

Chr21:41639464-41733339

Gain

94

3

FAM3B,MX2, MX1

VSD

ASD (15)

NS8343

M

5 m

Xp22.2

ChrX:13,472,898-13,530,787

Loss

58

1

EGFL6

VSD,PDA,ASD,PFO

/

  1. aMajor genes means that they are not included all genes involved in the CNVs and the genes in bold are the candidate genes which have evidences derived from previous studies
  2. bReported phenotype in DECIPHER/ISCA/OMIM. Number in parenthesis is the number of features that the patient was affected. ASD, Atrial septal defect; VSD, Ventricular septal defect; CHD, congenital heart disease