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Table 1 Copy number variants of potential clinical significance in OCD subjects

From: Uncovering obsessive-compulsive disorder risk genes in a pediatric cohort by high-resolution analysis of copy number variation

Case

Sample ID

Sex

Onset (year)

CNV type

Locationa

Size (kb)

Genes

CNV source

Exome seq

De novo

A

8961143

F

6

dup

Xp22.31

305

VCX3B, KAL1

de novo

B

896993

M

8

del

4p16.3

165

ADRA2C

de novo

 
    

dup

3p26.3

1735

CNTN6, CNTN4

pat

 

C

1254 (188613)

M

3

del

3p12.2

182

de novo

    

del

3q26.31

142

NLGN1

mat

 
    

del

7q36.2

115

DPP6

mat

 
    

dup

7q36.3

67

PTPRN2 b

pat

 

D

896713

F

10

dup (mosaic)

10q11.22- q11.21

239

ZFAND4, FAM21C, MARCH8

de novo

nsf c

    

dup

10q24.1

81

SLIT1 b

mat

 

Overlap with curated DECIPHER syndromesd

E

HAM493

F

8

dup

15q11.2-q13.1

4918

13 genes

n/a

 

F

0625-4262-1

M

8

dup

1q21.1-21.2

1799

15 genes

mat

G

1648

F

12

del

17p12

1404

8 genes

mat

    

dup

5p11-p12 e

1065

HCN1 b

pat

 

H

896573

M

9

dup

16p13.11

783

8 genes

mat

nsf

Genes implicated in other neurodevelopmental disorders

I

1298

M

5

dup

Xp22.31

338

NLGN4X

mat

J

896673_a

M

12

del

9q33.1

173

ASTN2, TRIM32

n/a

 

K

7542

M

12

del

9q33.1

163

ASTN2, TRIM32 b

n/a

 

L

0625-3695-3

M

12

dup

12q24.33

682

TMEM132D

mat

M

1688

F

3

del

18q22.1

2126

CDH19, CDH7

mat

 

FMRP target genes

N

HAM193

M

12

dup

9p24.1

1489

PTPRD, C9orf123

n/a

 

O

896553

F

6

del

8p23.3

16

DLGAP2

pat

P

1213

M

4

dup

18p11.31

62

DLGAP1

pat

Overlap BTBD9

Q

0625-3790-3

F

8

del

6p21.2

107

BTBD9

pat

 

R

0625-7518-3

F

7

dup

6p21.2

469

GLO1, DNAH8, BTBD9

pat

 
  1. Abbreviations: n/a parental sample not available, nsf no significant findings, FMRP fragile X mental retardation protein
  2. aCoordinates can be found in Additional file 2: Table S1
  3. bOne CNV of the same type with similar breakpoints was also identified in our population controls
  4. c nsf indicates that exome sequencing of these probands identified no de novo or neurologically relevant loss-of-function mutations
  5. dDECIPHER list of expert-curated microdeletion and microduplication syndromes involved in developmental disorders
  6. eFound in the same patient, but not itself associated with DECIPHER syndromes