Summary
We report an example of four generation familial retinoblastoma in which there are three distinct categories of RB gene expression: frank retinoblastoma, unilateral or bilateral; retinoma; and no visible evidence of retinal pathology other than normal degeneration with age. Two large sibships derived from matings informative for RB and EsD provide strong confirmatory evidence for tight linkage between these loci (P=0.0002), and thus assignment of RB to chromosome 13q14. There is a striking difference (P(2%) in RB penetrance between the two principal generations, which suggests that an additional epistatic, host-resistance gene may also be segregating within the family.
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References
Bonaïti-Pellié C, Briard-Guillemot ML (1981) Segregation analysis in hereditary retinoblastoma. Hum Genet 57:411–419
Bundey S, Morten JEN (1981) An unusual pedigree with retinoblastoma. Does it shed light on the delayed mutation and host resistance theories? Hum Genet 59:434–436
Carlson EA, Desnick RJ (1979) Mutational mosaicism and genetic counselling in retinoblastoma. Am J Med Genet 4:365–381
Duane TB (1980) Clinical ophthalmology, vol 3. Harper and Row, Hagerstown, p 13
Gallie BL, Phillips RA (1982) Multiple manifestations of the retinoblastoma gene. In: Cotlier E, Maumenee I, Berman ER (eds) Genetic eye diseases: Retinitis pigmentosa and other inherited eye diseases. Birth Defects 18:689–701
Gallie BL, Ellsworth RM, Abramson DM, Phillips RA (1982) Retinoma: Spontaneous regression of retinoblastoma or benign manifestation of the mutation?. Br J Cancer 45:513–521
Herrmann J (1976) Delayed mutation as a cause of retinoblastoma: Application to genetic counselling. Birth Defects 12:79–90
Hopkinson DA, Mestriner MA, Cortner J, Harris H (1973) Esterase D: a new human polymorphism. Ann Hum Genet 37:119–137
Knudson AG Jr (1971) Mutation and cancer: Statistical study of retinoblastoma. Proc Natl Acad Sci USA 68:820–823
Matsunaga E (1978) Hereditary retinoblastoma: Delayed mutation or host resistance. Am J Hum Genet 30:406–424
Matsunaga E (1980) On estimating penetrance of the retinoblastoma gene. Hum Genet 56:127–128
Moolgavkar SH, Knudson AG (1981) Mutation and cancer: A model for human carcinogenesis. J Natl Cancer Inst 66:1037–1052
Sparkes RS, Sparkes MC, Wilson MG, Towner JW, Benedict W, Murphree AL, Yunis JJ (1980) Regional assignment of genes for human esterase D and retinoblastoma to chromosome band 13q14. Science 208:1042–1044
Sparkes RS, Murphree AL, Lingua RW, Sparkes MC, Field LL, Funderburk SJ, Benedict WF (1983) Gene for hereditary retinoblastoma assigned to human chromosome 13 by linkage to esterase D. Science 219:971–973
Vogel F (1979) Genetics of retinoblastoma. Hum Genet 52:1–54
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Connolly, M.J., Payne, R.H., Johnson, G. et al. Familial, EsD-linked, retinoblastoma with reduced penetrance and variable expressivity. Hum Genet 65, 122–124 (1983). https://doi.org/10.1007/BF00286647
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DOI: https://doi.org/10.1007/BF00286647