Van gen naar ziekte; retinoblastoom en het RB1-gen

- 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.