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GENATLAS PHENOTYPE
last update : 5/09/2006
Symbol RB
Location 13q14.2
Name retinoblastoma
Corresponding gene RB1
Main clinical features
  • a malignant tumor of the developing retina that occurs in early childhood
  • predisposition to retinoblastoma is observed in patients heterozygous for a mutation in RB1 with a penetrance as high as 99 percent
  • associated in rare cases with mental retardation and/or motor impairment in patients with a constitutional 13q deletion
  • Genetic determination autosomal dominant
    Prevalence 1:15 000 to1:20 000 livebirths
    Function/system disorder eye
    neoplasia
    Type malignancy
    Gene product
    Name nuclear phosphoprotein, RB1
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types     nonsense or frameshift mutations resulting in truncated protein, splicing mutations and exon skipping, two mutations must be present for tumor expression, one germinal and one somatic, or both somatic
      deletion   RB may be associated with a dysmorphic phenotype and mental retardation and/or motor impairment in patients with a constitutional deletion involving 13q14 band
      insertion   Some cases are due to malsegregation of a parental insertion
    Remark(s) RB1 is the only gene implicated in retinoblastoma
    Genotype/Phenotype correlations with 2/3 of truncating mutations either nonsense or frameshift with early onset, 1/3 of splicing mutations with a delayed onset, tumors are usually bilateral and/or multiple