Table 1 Clinical and molecular summary of CNKSR2-related neurodevelopmental and epilepsy disorder

1

8

4y

Y^c

N

c.2349T>G, p.(Tyr783*)

This study

2

21

15m^b

Y

Y

c.1537C > T, p.(Pro513Ser)^e

This study

3

5

2y

Y^c

N

c.1988_1989del, p.(Arg663Asnfs*2)

This study

4

10

6m

Y

N

c.1653_1656del, p.(Asn551Lysfs*4)

This study

5

9

4y

N → Y^d

Y

c.2545C > T, p.(Arg849*)

This study

6

8

7d

Y^c

N

c.2145 + 1G > A

This study

7

9

8m

Y^c

Y

arr [hg19] Xp22.12 (21,278,397–21,678,707) × 0

This study

8

7

2y

Y

N

c.1198C > T, p.(Arg400*)

This study

9

9

4d

Y^c

N

c.2044 + 2 T > A

This study

10

5

2y

Y^c

N

c.520-1G > A

This study

11

11

23m

Y

N

c.2005del, p.(Ala669Glnfs*48)

This study

12

3

2y

Y^c

N

c.1905-2A > G

This study

13

8

2y

Y^c

N

c.2026_2027del, p.(Arg676Aspfs*2)

This study

14

7

2y

Y

Y

arr [hg19] Xp22.12 (21,322,029–21,678,137) × 0

Aypar et al. [1]

15

5

2.5y

Y

Y

arr [hg19] Xp22.12 (21,375,312–21,609,484 × 0

Houge et al. [7], Vaags et al. [17] pt 3

16

6

2y

Y^c

Y

arr [hg19] Xp22.12 (20,297,696–21,471,387) × 0

Vaags et al. [17] pt 1

8

27m

Y^c

Y

Vaags et al. [17] pt 2

17

12

8d

Y^c

Y

arr [hg19] Xp22.12 (21,193,947–21,707,169) × 0

Vaags et al. [17] pt 4

13

N/A

Y^c

Y

Vaags et al. [17] pt 5

18

56

?^b

Y^c

Y

g.21458832_21458833ins, p.(Asp152Argfs*8)

Vaags et al. [17] pt 6, Hu et al. [8], family P180

58

?^b

Y^c

Y

Vaags et al. [17] pt 7, Hu et al. [8], family P180

62

?^b

Y^c

Y

Vaags et al. [17] pt 8, Hu et al. [8], family P180

19

18

3.5y

Y^c

Y

c.2341C > T, p.(Arg712*)

Damiano et al. [5]

12

3.5y

Y

Y

Damiano et al. [5] brother

?

3.5y^b

Y

?

Damiano et al. [5] maternal uncle^f

20

9

2y

Y

N

c.2185C > T, p.(Arg729*)

Sun et al. [15]

21

6

2y

Y

N

c.2024_2027del, p.(Glu657Glyfs*41)

Bonardi et al. [2] pt 1

22

21

3y^b

N → Y^d

N

c.246_247del, p.(Thr83Lysfs*30)

Bonardi et al. [2] pt 2

23

12

4y

Y^c

Y (mosaic)

c.457_461del, p.(Tyr153Serfs*5)

Bonardi et al. [2] pt 3

24

10

3y

Y^c

N

arr [hg19] Xp22.12 (21,609,392–21,619,786) × 0

Bonardi et al. [2] pt 5

25

5

4y

Y

Y

arr [hg19] Xp22.12 (21,606,698–21,616,207) × 0

Daoqi et al. [6]

“Younger”

3y

Y

Y

Daoqi et al. [6] brother

26

6

N/A

Y

Y

c.1904 + 1G > A

Zhang et al. [20]

Females

–

N/A

N

?

c.1537C > T, p.(Pro513Ser)

Mother in family 2

–

N/A

N

?

c.2545C > T, p.(Arg849*)

Mother in family 5

–

N/A

N

?

arr [hg19] Xp22.12 (21,278,397–21,678,707) × 1

Mother in family 7

–

N/A

N

?

arr [hg19] Xp22.12 (21,322,029–21,678,137) × 1

Mother in family 14

–

N/A

N

N

arr [hg19] Xp22.12 (21,375,312–21,609,484) × 1

Mother in family 15

–

N/A

N

?

arr [hg19] Xp22.12 (20,297,696–21,471,387) × 1

Mother in family 16

16

6y

Y

Y

c.2341C > T, p.(Arg712*)

Sister in family 19

?

febrile

N

N

Mother in family 19

27

7

5y

Y

N

c.2304G > A, (p.Trp768*)

Polla et al. [14]

28

41

6y^b

N → Y^d

?

arr [hg19] Xp22.12 (21,523,673–21,558,329) × 1

Bonardi et al. [2], Lesca et al. [9] pt 4

?

Junior high

Y

N

arr [hg19] Xp22.12 (21,606,698–21,616,207) × 1

Mother in family 25

33

N/A

?

N

c.1904 + 1G > A

Mother in family 26