title: RB1 gene mutations in retinoblastoma.
abstract: 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.
authors.affiliation: Institut für Humangenetik, Universitätsklinkum Essen, Germany. dr.lohmann@uni.essen.de
authors.forename: D R
authors.initials: DR
authors.lastname: Lohmann
mesh_terms: D002874:Chromosome Mapping; D002882:Chromosomes, Human, Pair 13; D005134:Eye Neoplasms / Q000235:genetics*; D016161:Genes, Retinoblastoma; D018095:Germ-Line Mutation; D006801:Humans; D009154:Mutation; D017354:Point Mutation; D012175:Retinoblastoma / Q000235:genetics*