title: Genotype-phenotype correlation analysis in retinoblastoma patients from India.
abstract: BACKGROUND
  Genetic analysis has a beneficial impact on retinoblastoma management enabling definite risk assessment. However, information regarding genotype-phenotype correlation in retinoblastoma is limited.
  
  
  OBJECTIVE
  To analyze the retinoblastoma susceptibility gene for mutations in retinoblastoma patients and correlate the genotypes the phenotypes.
  
  
  METHODS
  Eleven retinoblastoma patients, who underwent molecular genetic studies were classified into high, moderate or low disease severity groups based on phenotype.
  
  
  RESULTS
  Seven patients had high disease severity and four moderate disease severity. Eleven truncating mutations were detected; six were in the N-terminus region of the retinoblastoma protein and two in the A/B pocket (p=0.03).
  
  
  CONCLUSIONS
  No significant association between mutation type and disease severity could be established in the present study. However a positive correlation between 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 from India.
authors.affiliation: SN ONGC Department of Genetics and Molecular Biology, Vision Research Foundation, India.
authors.forename: Biju
authors.initials: B
authors.lastname: Joseph
authors.forename: Rajiv
authors.initials: R
authors.lastname: Raman
authors.forename: Satagopan
authors.initials: S
authors.lastname: Uthra
authors.forename: Madhavan
authors.initials: M
authors.lastname: Jagadeesan
authors.forename: Anuradha
authors.initials: A
authors.lastname: Ganesh
authors.forename: Pradeep G
authors.initials: PG
authors.lastname: Paul
authors.forename: Tarun
authors.initials: T
authors.lastname: Sharma
authors.forename: Govindasamy
authors.initials: G
authors.lastname: Kumaramanickavel
mesh_terms: D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007194:India / Q000453:epidemiology; D008297:Male; D010641:Phenotype; D016133:Polymerase Chain Reaction; D012175:Retinoblastoma / Q000453:epidemiology / Q000235:genetics*; D012720:Severity of Illness Index