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

Table 2

Clinical data of 9 children with germline genetic phenotype.

Case	Onset age (month)	Eye classification	Pathological grade	c.DNA change	Amino acid change	Proband phenotype	Kinship phenotype	Family genetic risk factors	Prognosis
1	11	Bilateral	II	No mutation	—	No mutation	No mutation	Mother was patient	Dead
2	15	Bilateral	—	c.1735C>T	p.R579X	TC	CC (maternal)	Mother’s monocular onset	Dead
3	2	Bilateral	I	IVS24+1G>T	—	TT	TG (maternal); TG (maternal grandfather)	Grandmother had unilateral eye disease	EFS
4	2	Bilateral	—	c.1333C>T	p.R445X	TC	TC (maternal); TC (maternal grandmother)	Unilateral eye RB of grandmother and her mother	EFS
5	12	Bilateral		c.425_428delCCAA	—	CCAA del	CCAA	Brother died of RB	Survival with tumor
6	2	Trilateral	IV	c.2664-10T>A	—	AT	TT (parent)	Congenital hydrocephalus of child	Dead
7	17	Unilateral	I	c.2455C>G	p.L819V	GC	GC (maternal)	—	EFS
8	2	Unilateral	I	c.6249C>G; c.6119G>A	p.I2083M; p.R2040Q	GC/AG	CC/AG (paternal); GC/GG (maternal)	—	EFS
9	26	Bilateral	I	c.1531_1532GG>AA	—	AG/AG	GG/AG (parent)	—	EFS