Genotype-phenotype Correlation Analysis in Retinoblastoma Patients from India

Background: Genetic analysis has a beneficial impact on retinoblastoma management enabling definite riskassessment. However, information regarding genotype-phenotype correlation in retinoblastoma is limited. Aim: Toanalyze the retinoblastoma susceptibility gene for mutations in retinoblastoma patients and correlate the genotypesthe phenotypes. Methodology: Eleven retinoblastoma patients, who underwent molecular genetic studies were classifiedinto high, moderate or low disease severity groups based on phenotype.
Results: Seven patients had high diseaseseverity and four moderate disease severity. Eleven truncating mutations were detected; six were in the N-terminusregion of the retinoblastoma protein and two in the A/B pocket (p=0.03).
Conclusions: No significant associationbetween mutation type and disease severity could be established in the present study. However a positive correlationbetween location of the mutations in certain domains of the retinoblastoma protein and disease severity was observed.To the best of our knowledge this is the first genotype-phenotype correlation study in retinoblastoma patients fromIndia.