RB1 gene mutations in retinoblastoma

Hum Mutat. 1999;14(4):283-8. doi: 10.1002/(SICI)1098-1004(199910)14:4<283::AID-HUMU2>3.0.CO;2-J.


Mutations in both alleles of the RB1 gene are causal for the development of retinoblastoma, a childhood tumor of the eye. The spectrum of somatic and germline mutations in this gene is dominated by small mutations. Data on small mutations are listed in a locus specific database available at http://www.d-lohmann.de/Rb/mutations.html. Analysis of 368 reported small mutations reveals considerable heterogeneity. A notable recurrence of transitions is observed at 13 CpG-dinucleotides that are part of CGA codons or splice donor sites. Most mutations create a premature termination codon. With few exceptions, patients heterozygous for mutations of this kind develop bilateral retinoblastoma. Missense mutations and inframe deletions are rare. Some of these mutations are associated with a distinct phenotype marked by incomplete penetrance and reduced expressivity.

Publication types

  • Review

MeSH terms

  • Chromosome Mapping
  • Chromosomes, Human, Pair 13
  • Eye Neoplasms / genetics*
  • Genes, Retinoblastoma*
  • Germ-Line Mutation
  • Humans
  • Mutation*
  • Point Mutation
  • Retinoblastoma / genetics*