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

BMC Cancer

Table 4 Copy number variations (CNVs) identified in tumor/blood samples of Retinoblastoma patients

Patient no	CNV	logR	Method used	Cosegregation in family	MLPA confirmation
RB3	Deletion of whole RB1	-1.0	Cn. MOPS	De novo	Yes
RB5	Deletion of exons 4-6	-1.0	Cn. MOPS	De novo	Yes
RB6	Deletion of exon 22	-1.0	Cn. MOPS	-	No
RB6	Deletion of exons 24-25	-5.5	Cn. MOPS	Heterozygous Father	Yes
RB7	Deletion of exons 10-12	-1.2	Cn. MOPS	Heterozygous Father	Yes
RB21	Deletion of exon 10	-5.4	ExomeCNV	-	Yes
RB32	Deletion of exons 7-27	-1.1	ExomeCNV	-	Yes

Two programs, Cn. MOPS and ExomeCNV were used to identify germline and somatic CNVs from blood and tumor samples respectively. CNVs identified were confirmed and cosegregation was observed by MLPA. The exon 22 deletion identified in patient RB6 was not detected by MLPA. Except the exon 10 homozygous deletion identified in patient RB21, all other CNVs were heterozygous.

ISSN: 1471-2407