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 3 Detected variants in familial cases

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

Family ID	Phenotype	Inheritance Before/After testing	Gene	Refseq ID	Nucleotide change	Predicted amino acid change	Heterozygosity	Segregation	Pathogenicity	In silico prediction				Note
Family ID	Phenotype	Inheritance Before/After testing	Gene	Refseq ID	Nucleotide change	Predicted amino acid change	Heterozygosity	Segregation	Pathogenicity	FATHMM	SIFT	Mutation Taster	LRT	Note
1	Bi,All	AD/AD	CRYGC	NM_020989.3	c.497C > T	p.Ser166Phe\|p.S166F	Het	Yes/present in affected mother	P	D	D	D	D	[19]
2	Bi,Lam	AD/AD	CRYGD	NM_006891.3	c.70C > A	p.Pro24Thr\|p.P24T	Het	Yes/present in affected father	P	B	B	/	/	[36, 37]
3	Bi, OS-All; OD-Dot	AD/X-linked	BCOR	NM_001123385.1	c.3490C > T	p.Arg1164\|p.R1164	Het	Yes/present in affected mother	P	/	/	D	/	OFCD [38]
4	Bi, Nu	AD/AD	CRYAA	NM_000394.3	c.61C > T	p.Arg21Trp\|p.R21W	Het	Yes/present in affected mother	P	D	D	D	D	[37, 39]
5	Bi,Cora	AD/AD	CRYGD	NM_006891.3	c.70C > A	p.Pro24Thr\|p.P24T	Het	Yes/present in affected mother	P	B	B	/	/	[36, 37]
6	Bi, Nu	AD/AD	BMP4	NM_001202.4	c.751C > T	p.His251Tyr\|p.H251Y	Het	NK/present in unaffected mother	P	B	D	D	D	Microphthalmia [40]
6	Bi, Nu	AD/AD	CRYBA1	NM_005208.4	c.626C > G	p.Ser209Trp\|p.S209W	Het	Yes/present in affected father and paternal grandfather	P	D	D	D	D	[17]
7	Bi,All	AD/AD	CRYGC	NM_020989.3	c.192del	p.Asp65Thrfs38\|p.D65Tfs38	Het	Yes/present in affected mother and elder brother	P	/	/	/	/	Adjacent loci c.193del [41]
8	Bi,Peri+Cor	AD/?AD or AR	OPA3	NM_001017989.2	c.123C > G	p.Ile41Met\|p.I41M	Het	Yes/present in affected mother	LP	D	D	D	T	Optic atrophy [24]
9	Bi+Micro	AD/AD	GJA8	NM_005267.4	c.136G > A	p.Gly46Arg\|p.G46R	Het	Yes, present in affected father	LP	D	D	D	D	[42]
10	Bi+Dot	AD/AD	PAX6	NM_001310158.1	c.52G > A	p.Gly18Arg	Het	Yes, present in affected mother	LP	D	D	D	T	Peter’s [43]
11	Bi All	AD/AD	PAX6	NM_001310158.1	c.113G > C	p.Arg38Pro\|p.R38P	Het	Yes/presented in affected mother from a consanguineous family	VUS	D	D	D	T	c.113G > A (p.R38Q) CC and nystagmus (HGMD)
12	Bi,Nys,Post +OD-ASD	AD/AD	PAX6	NM_001310158.1	c.966del	p.Phe323Serfs56\|p.F323Sfs56	Het	NK/parental samples unavailable, mother affected	P	/	/	/	/	Aniridia [44]
13	Bi,Post+Sub	AD	CYP1B1	NM_000104.3	c.319C > G	p.Leu107Val\|p.L107V	Hom/het	Present in affected father and unaffected mother	VUS	/	/	D	D	Glaucoma [45]
13	Bi,Post+Sub	AD	FBN1	NM_000138.4	c.7559C > T	p.Thr2520Met\|p.T2520M	Het	Present in affected father	VUS	D	B	D	D	Marfan [46]
14	Bi	AD/AD	WFS1	NM_006005.3	c.449C > T	p.Ala150Val\|p.A150V	Het	Present in affected mother	VUS	D	B	D	D	Wolfman-like syndrome [31,32,33]

Bi binocular, All all white, Lam lamellar, Sub subcapsular, Cort cortical, Post posterior polar, Nuc nuclear, ASD anterior segment dysplasia, Dot dot-like, Peri perinuclear, Micro microphthalmia, Cora coralliform, Nys nystagmus, Hom homozygosis, Het heterozygosis, P pathogenic, LP likely pathogenic, VUS variant of unknown significance, D damaging, B benign, T tolerated, NK not known, OFCD Oculofaciocardiodental syndrome

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ISSN: 1471-2415

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