Table 2 Molecular data for all individuals with variants in POGZ

This study

1

F

1.6 years

Not maternal

c.2321_2324delCTCT

p.Ser774Cysfs*16

15/19

2

F

1.7 years

+

c.2763dupC

p.Thr922Hisfs*22

19/19

3

M

3.8 years

+

c.833C > G

p.Ser278*

6/19

4

F

5.1 years

+

c.2935C > T

p.Arg979*

19/19

5

F

4 years

+

c.2780dupT

p.Leu927Phefs*17

19/19

Previously reported

Fukai et al. (2015) [21]

M

5 years

+

c.3118G > A

p.E1040K

19/19

Iossifov et al. (2014) [17]

M

NR

+

c.3022C > T

p.Arg1008*

19/19

Iossifov et al. (2012) [18]

M

NR

+

c.3600_3607dupTGATGACG

p.Glu1203Valfs*28

19/19

Neale et al. (2012) [19]

F

NR

+

c.2459_2462dupGTAC

p.Phe822Tyrfs*43

17/19

Fromer et al. (2014) [20]

F

NR

+

c.3936delT

p.Ile1312Metfs*7

19/19

Gilissen et al. (2014) [34]

NR

NR

+

c.3001C > T

p.Arg1001*

19/19

Deciphering Dev. Disorders (2015) [35]

NR

NR

+

c.2711 T > A

p.Leu904*

19/19

NR

NR

+

c.3354delC

p.Leu1119Cysfs*

19/19