The mutation spectrum in familial versus sporadic congenital cataract based on next-generation sequencing

Fan, Fan; Luo, Yi; Wu, Jihong; Gao, Chao; Liu, Xin; Mei, Hengjun; Zhou, Xiyue

doi:10.1186/s12886-020-01567-x

BMC Ophthalmology

Table 2 Detected variants in sporadic cases

From: The mutation spectrum in familial versus sporadic congenital cataract based on next-generation sequencing

Family	Phenotype	Inheritance:Before/After testing	Gene	Refseq ID	Nucleotide change	Predicted amino acid change	Heterozygosity	Segregation	Pathogenicity	In silico Prediction				Note (other reported phenotype or references)
Family	Phenotype	Inheritance:Before/After testing	Gene	Refseq ID	Nucleotide change	Predicted amino acid change	Heterozygosity	Segregation	Pathogenicity	FATHMM	SIFT	Mutation Taster	LRT	Note (other reported phenotype or references)
1	Bi, Sub, Junvenile	Sporadic/AR	CYP27A1	NM_000784.3	c.1263 + 1G > A	–	Hom	Father heterozygous	P	/	/	D	/	Cerebrotendinous xanthomatosis [23]
2	Bi,All	Sporadic/new AD	CRYBB2	NM_000496.2	c.487C > T	p.Gln163\|p.Q163	Het	De novo; not found in parents	P	/	/	D	D	Novel
3	Bi,All	Sporadic/AD?	OPA3	NM_001017989.2	c.123C > G	p.Ile41Met\|p.I41M	Het	Present in unaffected mother Present in unaffected mother	P	D	D	D	T	Optic atrophy [24]
3	Bi,All	Sporadic/AD?	JAG1	NM_000214.2	c.1511A > G	p.Asn504Ser\|p.N504S	Het	Present in unaffected mother Present in unaffected mother	P	B	B	D	D	Alagille syndrome [25, 26]
4	Mo,Sub + Post,	Sporadic/AD or AR?	BEST1\|BEST1	NM_001139443.1\|NM_004183.3	c.20G > A	p.Ser7Asn\|p.S7N	Het	Present in unaffected mother	P	D	B	D	T	Best vitelliform macular dystrophy [27, 28]
5	Mo, All, PHPV	Sporadic/AD or AR?	BEST1	NM_001139443.1\|NM_004183.3	c.584C > T	p.Ala195Val\|p.A195V	Het	Present in unaffected father	P	D	D	D	D	Bestrophinopathy [29, 30]
6	Bi,Nuc	Sporadic/X-linked?	NHS	NM_001291867.1	c.2774_2775dup	p.Gln926Leufs*3	Hemi/Het	Present in unaffected mother	LP	/	/	/	/	Novel
7	Bi,OD-Dot,OS-Ant+Dot	Sporadic/X-linked?	NHS	NM_001291867.1	c.2933 T > C	p.Ile978Thr\|p.I978T	Het/Hemi	Present in unaffected father	VUS	B	B	D	D	Novel
8	Mo,Sub, Junvenile	Sporadic/AR?	WFS1	NM_006005.3	c.2603G > A	p.Arg868His	Het	Present in unaffected father	LP	D	D	D	D	Wolfram-like syndrome [31,32,33]
9	Mo,Nuc	Sporadic/XR	COL4A5	NM_033380.2	c.4003C > T	p.Pro1335Ser\|p.P1335S	Hemi/Het	Yes/Present in son and unaffected mother	VUS	D	D	D	D	Alport Syndrome [34]
10	Bi,Cort+Sub,FEVR, Cleft Lip and Palate	Sporadic/AD?	TSPAN12	NM_012338.3	c.194C > T	p.Pro65Leu\|p.P65L	Het	Present in unaffected father	VUS	B	B	D	D	Novel, gene associated with FEVR [35]

Bi binocular, Mo monocular, Sub subcapsular, Cort cortical, Post posterior polar, Nuc nuclear, Ant anterior polar, All all white, Dot dot-like, Peri perinuclear, Micro microphthalmia, Hom homozygosis, Het heterozygosis, P pathogenic, LP likely pathogenic, VUS variant of unknown significance, D damaging, B benign, T tolerated

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ISSN: 1471-2415

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