Table 1.

Familial and sporadic pediatric cataracts with likely causative variants

Proband ID	Sex	Age of onset	Ocular phenotype	Extraocular features	Inheritance,before and after testing	Gene Refseq ID	Nucleotide change	Predicted amino acid change	Protein domain	SIFT/MutTaster/PolyPhen	MAF (ExAC, East Asian)	ACMG	Novel
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

Abbreviations: Proband ID, F family, S sporadic case, Sex, F female, M male; D, damaging, T tolerated, B benign, ACMG American College of Medical Genetics and Genomics, P pathogenic, LP likely pathogenic, Ref Reference