Table 1 Familial and sporadic pediatric cataracts with likely causative variants

F#1

F

1 year

Perinuclear cararact, microphthalmia

-

AD

CRYAA NM_000394.3

c.61C>T

p.(Arg21Trp)

Alpha-crystallin N-terminal

D, D, D

-

P

Ref [35]

F#2

M

Birth

Total cataract

-

AD

CRYBA1 NM_005208.4

c.552_557delinsGGAGG

p.(Cys185Glufs*33)

-

-

-

P

Yes

F#3

F

Birth

Total cataract, microphthalmia

-

AD

CRYBA4 NM_001886.2

c.277T>C

p.(Ser93Pro)

2nd Greek key

D, D, D

-

P

Yes

S#1

F

Birth

Total cataract, nystagmus

-

Sporadic->new AD

CRYBB1 NM_001887.3

c.508G>T

p.(Asp170Tyr)

3rd Greek key

D, D, D

-

P

Yes

F#4

M

5 years

Nuclear cataract

-

AD

CRYGC NM_020989.3

c.233C>T

p.(Ser78Phe)

2nd Greek key

D, D, D

-

LP

Yes

F#5

M

Birth

Unknown type

-

AD

CRYGD NM_006891.3

c.70C>A

p.(Pro24Thr)

1st Greek key

T, D, B

-

P

Ref [10, 11]

S#2

M

Birth

Unknown type

Sporadic->new AD

CRYGD NM_006891.3

c.134T>C

p.(Leu45Pro)

2nd Greek key

D, D, D

-

P

Ref [12]

F#6

F

Birth

Total cataract, strabismus, nystagmus

-

AD

CRYGD NM_006891.3

c.309dup

p.(Glu104Argfs*4)

-

-

-

P

Ref [36]

S#3

F

Birth

Total cataract, nystagmus

-

Sporadic->new AD

CRYGD NM_006891.3

c.418C>T

p.(Arg140*)

-

-

-

P

Ref [37]

F#7

F

2 months

Unknown type, nystagmus

-

AD

MIP NM_012064.3

c.494G>A

p.(Gly165Asp)

Aquaporin-like

D, D, D

-

P

Ref [17]

S#4

F

3 months

Total cataract, nystagmus

-

Sporadic->new AD

MIP NM_012064.3

c.530A>G

p.(Tyr177Cys)

Aquaporin-like

T, D, D

-

P

Ref [18]

F#8

F

Birth

Unknown type, nystagmus

-

AD

MIP NM_012064.3

c.612C>G

p.(Tyr204*)

-

-

-

P

Yes

S#5/F#9

M/F

3/5 months

Total cataract, nystagmus/Total cataract

-

Sporadic/AR->AR

GCNT2 NM_001491.2

c.1043G>A

p.(Gly348Glu)

Lumenal domain

D, D, D

0.00104

P

Ref [15]

c.1148G>A

p.(Arg383His)

Lumenal domain

D, D, B

0.0003467

P

S#6

M

5 months

Perinuclear cararact

-

Sporadic->AR

IARS2 NM_018060.3

c.607G>C

p.(Gly203Arg)

Aminoacyl-tRNA synthetase

D, D, D

LP

Yes

c.2575T>C

p.(Phe859Leu)

Anticodon-binding

T, D, D

0.002775

LP

F#10

M

6 months

Unknown type

-

AR

IARS2 NM_018060.3

c.2446C>T

p.(Arg816*)

-

-

0.0001156

P

Yes

c.2575T>C

p.(Phe859Leu)

Anticodon-binding

T, D, D

0.002775

LP

S#7

M

Birth

Unknown type, microphthalmia, microcornea, nystagmus

Long narrow face, small nose, mild anteverted pinnae, and dental anomalies

Sporadic->X-linked

NHS NM_001291868.1

c.2739del

p.(Phe913Leufs*9)

-

-

-

P

Yes

S#8

M

Birth

Total cataract, microphthalmia, microcornea, nystagmus

Large anteverted pinnae, mental retardation

Sporadic/new X-linked

NHS NM_001291868.1

c.3207_3208del

p.(Ala1070Phefs*16)

-

-

-

P

Yes

S#9

F

Birth

Total cataract, microphthalmia, microcornea

Hypodontia

Sporadic->new X-linked

BCOR NM_001123384.1

c.4706dup

p.(Gly1570Argfs*7)

-

-

-

P

No

F#11

F

Birth

Total cataract

-

AD

BFSP2 NM_003571.3

c.697_699del

p.(Glu233del)

Intermediate filament rod domain

-

-

p

Ref [13]

S#10

M

7 months

Unknown type

-

Sporadic->AR

FYCO1 NM_024513.3

c.808C>T

p.(Gln270*)

-

-

-

P

Yes

c.3587+1G>T

-

-

0.0002326

P

S#11

M

Birth

Posterior polar cataract

-

Sporadic->new AD

MAF NM_001031804.2

c.950A>G

p.(Glu317Gly)

b-Zipper

D, D, D

-

P

Yes

F#12

M

3 months

Unknown type, nystagmus

-

AR->AD

PAX6 NM_001310159.1

c.113G>A

p.(Arg38Gln)

Paired domain

D, -, D

-

P

Yes