Skip to main content

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

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

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
  1. 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.