Molecular etiology of low-penetrance retinoblastoma in two pedigrees

In one family with low-penetrance retinoblastoma, a germ-line deletion is shared by affected and unaffected, obligate carriers. The deletion encompasses exon 4 of the retinoblastoma gene and corresponds to a mutant protein without residues 127-166. In a second family, RFLP analysis shows that two distant relatives have independently derived mutations. These families, together with others reported elsewhere, indicate that attributes of alleles at the retinoblastoma locus specify penetrance.