title: [From gene to disease; retinoblastoma and the RB1 gene].
abstract: Retinoblastoma is caused by mutations in the RB1 gene. The penetrance is 95%, as in approximately 5% of the mutation carriers, no second somatic mutation occurs in one of their retina cells during embryonic development. Molecular diagnosis is performed by a complete scanning of the RB1 coding sequence which includes flanking intronic sequences. Approximately 85% of pathogenic mutations can be identified.
authors.affiliation: Rijksuniversiteit, afd. Medische Genetica, Antonius Deusinglaan 4, 9713 AW Groningen. h.scheffer@medgen.azg.nl
authors.forename: H
authors.initials: H
authors.lastname: Scheffer
authors.forename: S M
authors.initials: SM
authors.lastname: Imhof
authors.forename: A C
authors.initials: AC
authors.lastname: Moll
mesh_terms: D002648:Child; D004252:DNA Mutational Analysis; D016161:Genes, Retinoblastoma / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D019572:Retinal Neoplasms / Q000235:genetics*; D012175:Retinoblastoma / Q000235:genetics*; D016160:Retinoblastoma Protein / Q000378:metabolism*
chemical_list: D016160:Retinoblastoma Protein