Absence of Substantial Copy Number Differences in a Pair of Monozygotic Twins Discordant for Features of Autism Spectrum Disorder

Table 4

CNV regions (CNVR) distribution after array CGH comparisons of twin-to-twin (blood) and twin-to-reference (blood, saliva, and hair follicle).

Chr.

Start

End

Size

Number of probes

Twin-to-twin

Twin-to-reference

Number of CNVs at DBGV^1

Genes contained in CNV region

Blood

Saliva

Hair follicle

TWO

TWX

TWO

TWX

TWO

TWX

chr1

67955965

68093815

16

16

DEL

DEL

DEL

DEL

DEL

DEL

2

chr1

72768855

72795480

26625

5

AMP

AMP

AMP

AMP

AMP

AMP

28

chr1

152556449

152581944

25495

6

DEL

DEL

DEL

DEL

DEL

DEL

25

LCE3C

chr2

34697718

34738236

40518

8

AMP

AMP

AMP

AMP

AMP

AMP

12

chr3

195421860

195444214

22354

9

AMP

AMP

AMP

AMP

AMP

AMP

28

MIR570

chr4

69387056

69483277

96221

12

AMP

AMP

AMP

AMP

AMP

AMP

23

UGT2B17, UGT2B15

chr6

32455274

32521929

66655

10

DEL

DEL

DEL

DEL

DEL

DEL

52

HLA-DRB5, HLA-DRB6

chr6

32611013

32654142

43129

9

DEL

DEL

DEL

DEL

DEL

DEL

40

HLA-DQA1, HLA-DQB1

chr8

39234992

39386158

151166

28

AMP

AMP

AMP

AMP

AMP

AMP

25

ADAM5P, ADAM3A

chr10

56448627

56468820

20193

5

AMP

AMP

AMP

AMP

AMP

AMP

9

PCDH15

chr12

9637323

9698517

61194

8

DEL

DEL

DEL

DEL

DEL

DEL

19

chr14

19435611

20420849

985238

34

DEL

DEL

DEL

DEL

DEL

DEL

130

POTEG, P704P, OR4Q3, OR4M1, OR4N2, OR4K2, OR4K5, OR4K1

chr14

22499836

22968425

468589

102

TWO > TWX

DEL

DEL

—

—

—

—

31

TCR alpha region

chr14

105401140

105431289

30149

8

AMP

AMP

AMP

AMP

AMP

AMP

4

AHNAK2

chr15

20172544

22835945

2663401

110

AMP

AMP

AMP

AMP

AMP

AMP

282

GOLGA6L6, GOLGA8C, BCL8, POTEB, NF1P1, LOC646214, CXADRP2, LOC727924, OR4M2, OR4N4, OR4N3P, GOLGA8D, GOLGA6L1, TUBGCP5

chr20

1563715

1580958

17243

5

DEL

DEL

DEL

DEL

DEL

DEL

27

SIRPB1

chr22

24347959

24409603

61644

13

AMP

AMP

AMP

AMP

AMP

AMP

33

LOC391322, GSTT1, GSTTP2, CABIN1

chrX (chrY)

70397

2431564

2361167

683

TWO > TWX^2

DEL

DEL

DEL

DEL

AMP

AMP

106

PLCXD1, GTPBP6, NCRNA00107, PPP2R3B, SHOX, CRLF2, CSF2RA, IL3RA, SLC25A6, NCRNA00105, ASMTL, P2RY8, SFRS17A, ASMT , DHRSX, ZBED1

chrX

53501375

53672366

170991

41

DEL

DEL

DEL

DEL

DEL

DEL

2

HUWE1 , MIR98, MIRLET7F2

1Number of CNVs at Database of Genomic Variants (DBGV, [21]) overlapping CNVR detected.
²Amplified in TWO blood.
Highlighted in bold-italics genes previously associated with ASD according to AUTDB [20].