Table 1 Sequence variants identified in the NSD1 gene in 88 patients with autism spectrum disorders and macrocephaly

Intron 1

   IVS1+6T→C

...

1 T/C

Paternal

No

Exon 2

   c.339C→T

C113C

1 T/T

Paternal/maternal, present in 1 sib with autism and 1 unaffected sib

[27, 33]

Exon 5

   c.1482C→T

C494C

38 C/T, 2 T/T

rs1363405

   c.1811G→T

R604L

1 G/T

Paternal (no siblings)

[27]

   c.1749G→A

E583E

19 G/A, 1 A/A

rs3733874

   c.1792T→C

L598L

3 T/C

rs28932176

   c.840G→T

V614L

19 G/T, 1 T/T

rs3733875

   c.2071G→A

A691T

5 G/A

rs28932177

   c.2176T→C

S726P

22 T/C, 2 C/C

rs28932178

   c.2465C→G

S822C

1 C/G

Maternal, present in 1 unaffected sib

No

   c.2835T→C

S945S

1 T/C

Maternal (absent in 1 sib with autism)

No

   c.3106G→C

A1036P

5 G/C

rs28932179

   c.3705T→C

N1235N

13 T/C

rs28932181

Exon 10

   c.4496A→G

E1499G

1 A/G

Paternal, present in 1 unaffected sib

No

Intron 14

   IVS14-45C→G

...

1 C/G

Maternal, present in 1 unaffected sib

No

Intron 17

   IVS17-22G→A

...

16 G/A

[51, 52]

Exon 23

   c.6750G→A

M2250I

16 G/A

rs35848863

   c.6782T→C

M2261T

16 T/C

rs34165241

   c.6829C→T

L2277L

19 C/T, 1 T/T

rs28580074

   c.6903G→C

G2301G

29 G/C, 4 C/C

rs11740250

   c.7636G→A

A2546T

11 G/A

[32, 52]