Familial, EsD-linked, retinoblastoma with reduced penetrance and variable expressivity (original) (raw)

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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Authors and Affiliations

1. School of Nursing, Memorial University of Newfoundland, A1B3V6, St. John's, Newfoundland, Canada
   M. J. Connolly
2. Faculty of Medicine, Memorial University of Newfoundland, A1B3V6, St. John's, Newfoundland, Canada
   R. H. Payne, G. Johnson, P. W. Allderdice, W. H. Marshall & R. D. Lawton
3. Department of Ophthalmology, University of Toronto, Canada
   B. L. Gallie

Authors

1. M. J. Connolly
2. R. H. Payne
3. G. Johnson
4. B. L. Gallie
5. P. W. Allderdice
6. W. H. Marshall
7. R. D. Lawton

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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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• Received: 15 March 1983
• Revised: 29 June 1983
• Issue date: December 1983
• DOI: https://doi.org/10.1007/BF00286647

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