[From gene to disease; retinoblastoma and the RB1 gene].
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.
Scheffer
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H
Rijksuniversiteit, afd. Medische Genetica, Antonius Deusinglaan 4, 9713 AW Groningen. h.scheffer@medgen.azg.nl
Imhof
S M
SM
Moll
A C
AC
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*
D016160:Retinoblastoma Protein