Targeted next generation sequencing of RB1 gene for the molecular diagnosis of Retinoblastoma

BMC Cancer

Table 2 RB1 variants identified by targeted NGS in blood samples of RB patients

Patient no	cDNA change	Amino acid change	Functional consequence	Cosegregation in family
RB1	c.-212_-195del		Promoter Deletion	Heterozygous Father
RB2	c.1399C > T	p.R467X	Premature Protein Termination	Heterozygous Father
RB4	c.265-9 T > A		Altered Splicing	Heterozygous Mother and Sibling
RB11	c.46_74del	p.A16AfsX14	Frameshift	Heterozygous Mother and three Siblings
RB13	c.751C > T	p.R251X	Premature Protein Termination	De novo
RB14	c.2520 + 4 A > G		Altered Splicing	Heterozygous Father
RB15	c.2115_2118del	p.M705IfsX8	Frameshift	Heterozygous Father
RB16	c.1363C > T	p.R455X	Premature Protein Termination	De novo
RB17	c.1960 + 2 T > A		Altered Splicing	Heterozygous Father and Sibling
RB18	c.38_66del	p.A13AfsX17	Frameshift	De novo
RB19	c.1399 C > T	p.R467X	Premature Protein Termination	Heterozygous Mother
RB24	c.1961_1963del	p.654_655del	Altered Splicing	De novo
RB25	c.1072C > T	p.R358X	Premature Protein Termination	De novo
RB26	c.521 T > A	p.L174X	Premature Protein Termination	De novo
RB27	c.160G > T	p.E54X	Premature Protein Termination	De novo

Novel variants are marked in bold. Cosegregation of the variants was confirmed by Sanger sequencing analysis of the variants in family members.

ISSN: 1471-2407