Table 2

List of mutations identified in our study

PatientSexTumour form/typeMutationEffectLocalisationMethod of detectionGenBank number
Novel mutations are shown in bold and constitutional mutations are underlined. The mutation nomenclature was based in Dunnen and Antonarakis.26 Nucleotide positions and codon identification numbers are based on the normal RB1 sequence (GenBank accession L11910).
B, bilaterally affected patients; E, exon; F, familial; I, intron; S, sporadic; U, unilaterally affected patients; SEQ, direct DNA sequencing; SSCP1, single strand conformational polymorphism gel without glycerol; SSCP2, single strand conformational polymorphism gel with glycerol.
HC17MaleS/B g.5506-5507insAG R73fsX77E 2SEQAY282604
g.78238C>TR552XE 17SSCP2L41924
HC6MaleS/Ug.64348C>TR320XE 10SEQAF532992
HC1MaleS/U g.76429G>A Abnormal splicingI 13SSCP1AY124935
HC27FemaleS/B g.76430C>T R445XE 14SEQAF532990
HC7FemaleF/B g.78238C>T R552XE 17SSCP2L41924
HC38FemaleF/B g.78238C>T R552XE 17SSCP2L41924
HC9MaleS/B g.78250C>T R556XE 17SSCP2L41904
HC3MaleS/Bg.150037C>TR579XE 18SSCP1, 2AF532991
HC19FemaleS/Ug.150037C>TR579XE 18SSCP1, 2AF532991
HC22MaleS/U g.156795T>C L688PE 20SSCP2AY124936