Abstract
Autosomal dominant retinitis pigmentosa (adRP) is known to result from mutations in two different retinal genes—rhodopsin and peripherin—while a third locus has been implicated by linkage data. However, families have been reported in which all three known loci have been excluded. We report linkage of adRP in one such family to two microsatellite markers on chromosome 7p. D7S435 has previously been localized to 7p13–15.1; D7S460, previously only localized to chromosome 7, maps to within 2 cM of D7S435 with a lod score of 12.15. Two point linkage analysis between these markers and adRP gave lod scores of 5.65 (θ = 0) and 4.19 (θ = 0.046) for D7S460 and D7S435, respectively. Multipoint analysis gave a maximum lod score of 8.22. These data strongly suggest a new adRP locus on chromosome 7p.
This is a preview of subscription content, access via your institution
Access options
Subscribe to this journal
Receive 12 print issues and online access
$209.00 per year
only $17.42 per issue
Buy this article
- Purchase on SpringerLink
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
Similar content being viewed by others
References
Bird, A.C. Clinical investigation of retinitis pigmentosa. Aus. New Zeal. J. Ophtnal. 16, 189–198 (1988).
Massof, R.W. & Finkelstein, D. Two forms of autosomal dominant Retinitis Pigmentosa. Doc. Ophthalmol. 51, 289–346 (1981).
Lyness, A.L. et al. A clinical, psychophysiological and electroretinographic survey of patients with autosomal dominant Retinitis Pigmentosa. Br. J. Ophthalmol. 69, 326–339 (1985).
Dryja, T.P., Hahn, L.B., Cowley, G.S., McGee, T.L. & Berson, E.L. Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa. Proc. natn. Acad. Sci. U.S.A. 88, 9370–9374 (1991).
Sung, C.-H. et al. Rhodopsin mutations in autosomal dominant retinitis pigmentosa. Proc. natn. Acad. Sci. U.S.A. 88, 6481–6485 (1991).
Inglehearn, C.F. et al. A complete screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa. Hum. molec. Genet. 1, 41–45 (1992).
Kajiwara, K. et al. Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. Nature 354, 480–483 (1991).
Farrar, G.J. et al. A three basepair deletion in the peripherin-RDS gene in one form of Retinitis Pigmentosa. Nature 354, 478–480 (1991).
Wells, J. et al. Mutations in the human retinal degeneration slow (RDS) gene can cause either Retinitis Pigmentosa or macular dystrophy. Nature Genet. 3, 213–218 (1992).
Blanton, S.H. et al. Linkage mapping of autosomal dominant Retinitis Pigmentosa (RP1) to the pericentric region of human chromosome 8. Genomics 11, 857–869 (1992).
Lester, D.H. et al. Linkage to D3S47 (C17) in one large autosomal dominant retinitis pigmentosa family and exclusion in another: confirmation of genetic heterogeneity. Am. J. hum. Genet. 47, 536–541 (1990).
Bashir, R. et al. Exclusion of chromosome 6 and 8 locations in non-rhodopsin autosomal dominant Retinitis Pigmentosa families; Further locus heterogeneity in adRP. Genomics 14, 191–193 (1992).
Jay, M., Moore, A.T., Bird, A.C. & Jay, B.R. Nine generations of a family with autosomal dominant retinitis pigmentosa and evidence of variable expressivity from census records. J. med. Genet. 29, 906–910 (1992).
Moore, A.T. et al. Autosomal dominant Retinitis pigmentosa with apparent incomplete penetrance. Invest. Ophthal. 28, 3(suppl) (1987).
Berson, E.L. & Siminoff, E.A. Dominant retinitis pigmentosa with reduced penetrance. Further studies of the electroretinogram. Arch. Ophthal. 97, 1286–1291 (1979).
Berson, E.L., Gouras, P., Gunkel, R.D. & Myrianthopoulos, N.K. Dominant Retinitis pigmentosa with reduced penetrance. Arch. Ophthal. 81, 226–234 (1969).
Mishra, S.K., Helms, C., Dorsey, D., Permutt, M.A. & Donis-Keller, H. A 2cM genetic linkage map of human chromosome 7p that includes 47 loci. Genomics 12, 326–334 (1992).
NIH/CEPH Collaborative Mapping Group. A comprehensive genetic linkage map of the human genome. Science 258, 67–86 (1992).
Hudson, T.J. et al. Isolation and chromosomal assignment of 100 highly informative human simple sequence repeat polymorphisms. Genomics 13, 622–629 (1992).
Zheng, K., Gieser, L., Xu, E., Swaroop, A. & Yang-Feng, T.-L. Chromosomal localisation of cDNA clones from subtracted eye libraries. Am. J. hum. Genet. 51 (suppl.), 986 (1992).
Jordan, S.A. et al. Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q. Nature Genet. 4, 54–58 (1993).
Moore, A.T. et al. Abnormal dark adaptation kinetics in autosomal dominant sector retinitis pigmentosa due to rod opsin mutation. Br. J. Ophthal. 76, 465–469 (1992).
Weber, J.L., Kwitek, A.E. & May, P.E. Dinucleotide repeat polymorphisms at the D7S435 and D7S440 loci. Nucl. Acids Res. 18, 4039 (1990).
Attwood, J. & Bryant, S. A computer programme to make analysis with Liped and Linkage easier to perform and less prone to input errors. Ann. hum. Genet. 52, 259 (1988).
Lathrop, G.M., Lalouel, J.M., Julier, C. & Ott, J. Strategies for multipoint linkage analysis in humans. Proc. natn. Acad. Sci. U.S.A. 81, 3443–3446 (1984).
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Inglehearn, C., Carter, S., Keen, T. et al. A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p. Nat Genet 4, 51–53 (1993). https://doi.org/10.1038/ng0593-51
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1038/ng0593-51
This article is cited by
-
Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa
European Journal of Human Genetics (2002)
-
Molecular genetics of human retinal dystrophies
Eye (1998)
-
Linkage of Bardet–Biedl syndrome to chromosome 16q and evidence for non–allelic genetic heterogeneity
Nature Genetics (1993)
-
Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q
Nature Genetics (1993)