Correlation between Family RB1 Gene Pathogenic Variant with Clinical Features and Prognosis of Retinoblastoma under 5 Years Old

Table 3

Undefined RB1 gene pathogenic variant site and clinical data.

Case	Onset age (month)	IIRC staging	Pathological grade	cDNA change	Amino acid change	Proband phenotype	Family history	Kinship phenotype is consistent or not	Prognosis
1	53	D/E	IV	c.2124_2125insT	p.Y709Lfs12	T ins	No	No	Dead
2	17	E/	III	c.2455C>G	p.L819V	GC	No	Yes (mother)	Survival
3	15	D/E	I	IVS1+372G>C	—	CG	No	No	Survival
4	3	E/B	I	c.1686_1688del ATG	p.W563del	del ATG	No	No	Survival
5	3	D/D	—	c.2092A>T	p.R698W	TA	No	No	Lost follow up
6	16	D/D	—	IVS18+1_47delGTAAGCAAAATATATGTTATGTTGACCATTCAAACTGCAAATAGATT	—	GTAAGCAAAATATATGTTATGTTGACCATTCAAACTGCAAATAGATT del	No	No	Survival
7	17	D/D	—	c.376_380delATCAG IVS3+1_25delGTAAAGTTTCTTGTATAAATATAAG; c.376_386insGGAAACGAATT	—	ATCAGTAAAGTTTCTTGTATAAATATAAGdel; GGAAACGAATT ins	No	No	Survival
8	12	D/E	—	c.425_428delCCAA	—	CCAA del	Yes	No	Survival
9	16	/E	III	c.62delC	—	C del	No	No	Survival
10	20	D/	II	IVS4+50T>C	—	CT	No	No	Survival

, X/X: left eye staging/right eye staging.