Table 3 TCF20 (NM_005650.3) variants identified in the present study

#1

Frameshift

g.42610999_42611002dupGTGG

c.310_313dupCCAC

p.Gln106Profs*30

2

Maternal

NR

#2

Frameshift

g.42610718dupA

c.594dupT

p.Gly199Trpfs*56

2

De novo

No

#3

Nonsense

g.42610324G>A

c.988C>T

p.Gln330*

2

Mother negative

No

#4

Frameshift

g.4260792delG

c.1520delC

p.Pro507Leufs*5

2

De novo

No

#5

Nonsense

g.42609052G>A

c.2260C>T

p.Gln754*

2

Maternal

No

#6

Frameshift

g.42608984_42608985delCT

c.2327_2328delAG

p.Gln776Argfs*5

2

De novo

NR

#7

Frameshift

g.42608627delC

c.2685delG

p.Arg896Glyfs*9

2

Maternal

de novo

c.1189C>T, p.Gln397* in SLC6A1

#8

Nonsense

g.42608285A>T

c.3027T>A

p.Tyr1009*

2

De novo

No

#9

Nonsense

g.42608285A>T

c.3027T>A

p.Tyr1009*

2

Not known

No

#10

Frameshift

g.42607933delG

c.3379delC

p.Gln1127Serfs*10

2

De novo

No

#11

Frameshift

g.42607707dupC

c.3605dupG

p.Pro1203Serfs*15

2

Mother negative

NR

#12

Frameshift

g.42607678_42607679dupAC

c.3633_3634dupGT

p.Tyr1212Cysfs*13

2

De novo

No

#13

Nonsense

g.42607507G>A

c.3805C>T

p.Gln1269*

2

De novo

NR

#14

Frameshift

g.42607081dupC

c.4231dupG

p.Glu1411Glyfs*33

2

De novo

No

#15

Frameshift

g.42606763dupC

c.4549dupG

p.Asp1517Glyfs*30

2

De novo

No

#16

Frameshift

g.42606418delA

c.4894delT

p.Tyr1632Thrfs*6

2

De novo

No

#17

Missense

g.42606183 T>C

c.5129A>G

p.Lys1710Arg

2

De novo

de novo

c.1307G>T (p.R436L) in ZBTB18

#18

Frameshift

g.42605882dupT

c.5430dupA

p.Ala1811Serfs*4

2

De novo

No

#19

Frameshift

g.42605800_42605801dupGC

c.5511_5512dupCG

p.Leu1838Argfs*45

2

De novo

No

#20

Frameshift

g.42605782_42605783dupCA

p.5529_5530dupTG

p.Glu1844Valfs*39

2

De novo

NR

#21

Frameshift

g.42605775delG

c.5537delC

p.Pro1846Leufs*36

2

Not known

No

#22

Frameshift

g.42605742dupC

c.5570dupG

p.Cys1858Leufs*58

2

De novo

No

#23

Frameshift

g.42605659_42605660delTC

c.5652_56553delGA

p.Glu1884Aspfs*31

2

Not known

No

#24

Canonical splicing

g.42605656C>T

c5655+1G>A

N/A

Intron 2

Not known

No

#25

Nonsense

g.42575645G>A

c.5719C>T

p.Arg1907*

3

De novo

NR

#26

Nonsense

g.42575645G>A

c.5719C>T

p.Arg1907*

3

De novo

No

#27

Frameshift

g.42575632delG

c.5732delC

p.Pro1911Argfs*17

3

Paternal

No

#28

Frameshift

g.42575632delG

c.5732delC

p.Pro1911Argfs*17

3

Paternal

No

#29

Del

22q13.2q13.3

g.42394098-45037128del

2.64 Mb DEL

Deletion of 37 genes

Whole gene

Not known (adopted)

No

#30

Del

22q13.2

g.42607466-42770878del

163 kb DEL

Deletion of Exon1

1

De novo

No

#31

Del

22q13.2

g.42488512-42616581del

128 kb DEL

Deletion of 3 genes

Whole gene

De novo

No

#32

Del

22q13.2

g.42373034-42776457del

403 kb DEL

Deletion of 11 genes

Whole gene

De novo

No

Shafgen et al. [14]

Nonsense (n = 1)

Frameshift (n = 1)

N/A

N/A

N/A

2

De novo

No

Babbs et al. [6]

Complex chromosomal rearrangement (n = 2)

Missense (n = 1)

Frameshift (n = 1)

N/A

N/A

N/A

2/partial gene deletion

Possibly parental mosaicism/de novo

No

Lelieveld et al. [15]

Nonsense (n = 2)

Frameshift (n = 2)

N/A

N/A

N/A

2/3

De novo

No

McRae et al. [16]*

Inframe deletion (n = 1)

Missense variant (n = 1)

N/A

N/A

N/A

2

De novo

No