Table 2 Genetic analysis results

P1

Chr9:130438188

c.1216 C > T

p.R406C

14

3b

Missense

De novo

PS1 + PS2 + PS4 + PM2

P

[24, 26, 27]

P2

Chr9:130434297

c.664-1G>-

-

9

3a

Splice

De novo

PVS1 + PS2 + PM2

P

No

P3

Chr9:130430439

c.875G > A

p.R292H

10

3a

Missense

De novo

PS1 + PS2 + PS4 + PM2

P

[28, 29]

P4

Chr9:130438188

c.1216 C > T

p.R406C

14

3b

Missense

De novo

PS1 + PS2 + PS4 + PM2

P

[24, 26, 27]

P5

Chr9:130430438

c.874 C > T

p.R292C

10

3a

Missense

Maternal

PS1 + PS4 + PM2 + PP1

P

[2]

P6

Chr9:130430438

c.874 C > T

p.R292C

10

3a

Missense

Maternal

PS1 + PS4 + PM2 + PP1

P

[2]

P7

Chr9:130440807

c.1457T > G

p.M486R

16

2

Missense

De novo

PS2 + PM2

LP

No

P8

Chr9:130438188

c.1216 C > T

p.R406C

14

3b

Missense

De novo

PS1 + PS2 + PS4 + PM2

P

[24, 26, 27]

P9

Chr9:130428514

c.733 C > A

p.H245N

8

2

Missense

De novo

PS2 + PM2 + PP2

P

No

P10

Chr9:130434396

c.1029 + 1G > T

-

12

3a

Splice

De novo

PS1 + PS2 + PM2

P

[30]

P11

Chr9:130442466

c.1493_1505del

p.H498Pfs*44

17

2

Frameshift

De novo

PVS1 + PS2 + PM2

LP

No

P12

Chr9:130440789

c.1439 C > T

p.P480L

17

2

Missense

De novo

PS1 + PS2 + PS4 + PM2

P

[4, 17,18,19,20]

P13

Chr9:130438188

c.1216 C > T

p.R406C

14

3b

Missense

De novo

PS1 + PS2 + PS4 + PM2

P

[24, 26, 27]

P14

Chr9:130430411

c.847G > A

p.E283K

10

3a

Missense

Maternal

PS1 + PM2 + PP1

P

[19]

P15

Chr9:130416028

 C.122T > G

p.L41R

3

1

Missense

De novo

PS1 + PS2 + PS4 + PM2

P

No

P16

Chr9:130438197

c.1227_1229del

p.L410del

14

3b

Non frameshift

De novo

PS2 + PM2 + PM4

LP

No

P17

Chr9:130422330

c.268G > C

p.D90H

5

1

Missense

De novo

PS2 + PS4 + PM2

P

No

P18

Chr9:130416030

c.128_130del

p.S43del

3

1

Non frameshift

De novo

PS2 + PM2

LP

[22]

P19

Chr9:130428484

c.703 C > T

p.R235*

10

2

Nonsense

De novo

PVS1 + PS1 + PM2

P

[25]