Genetic detection of two novel LRP5 pathogenic variants in patients with familial exudative vitreoretinopathy

BMC Ophthalmology

Table 2 Computational analysis of variants in four probands with FEVR

Family	proband	Gene	ORF and Amino acid changes	Allele Status	MAF	SIFT	Polyphen-2	REVEL	Mutation Taster	GERP + +	ACMG	Genetic Model	Ref
Family 1	II2	LRP5 NM_002335.4: exon20	c.4289delC: p.Pro1431Argfs*8	Het	NA	NA	NA	NA	DC	4. 53	Pathogenic	AD	Novel
Family 2	II1	LRP5 NM_002335.4: exon9	c.2073G > T: p.Trp691Cys	Het	NA	D	PrD	0. 994	DC	4. 11	Pathogenic	AD	Novel
Family 3	II2	LRP5 NM_002335.4: exon8	c.1801G > A: p.Gly601Arg	Het	0. 0000083	D	PrD	0. 965	DC	4. 13	Pathogenic	AD	Reported
Family 4	II2	TSPAN12 NM_012338: exon8	c.633 T > A: p.Tyr211*	Het	NA	NA	NA	NA	DC	5. 68	Pathogenic	AD	Reported

In silico analyses: SIFT, Polyphen-2, REVEL, Mutation Taster, and GERP + +
Abbreviations: FEVR familial exudative vitreoretinopathy, ORF open reading frame, MAF minimum allele frequency, ACMG American College of Medical Genetics and Genomics, Ref reference, Het heterozygous, D damaging/ deleterious, DC disease-causing, PrD probably damaging, NA not available, AD autosomal dominant inheritance

ISSN: 1471-2415