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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1994 Dec;55(6):1173–1181.

Clinical diversity and chromosomal localization of X-linked cone dystrophy (COD1).

H K Hong 1, R E Ferrell 1, M B Gorin 1
PMCID: PMC1918428  PMID: 7977377

Abstract

X-linked progressive cone dystrophy (COD1) causes progressive deterioration of visual acuity, deepening of central scotomas, macular changes, and bull's-eye lesions. The cone electroretinography (ERG) is variably abnormal in affected males, and the rod ERG may also be abnormal. The clinical picture of heterozygous females ranges from asymptomatic to a widespread spectrum of cone-mediated dysfunction. A prior linkage study demonstrated linkage between the COD1 locus and the marker locus DXS84, assigned to Xp21.1, with no recombination. In the present study, we have clinically characterized a large four-generation family with COD1 and have performed a linkage analysis using seven polymorphic markers on the short arm of the X chromosome. No recombination was observed between the disease and the marker loci DXS7 and MAOA, suggesting that the location of COD1 is in the region Xp11.3, distal to DXS84 and proximal to ARAF1.

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Selected References

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  1. Aldred M. A., Wright A. F. PCR detection of existing and new polymorphism at the TIMP locus. Nucleic Acids Res. 1991 Mar 11;19(5):1165–1165. doi: 10.1093/nar/19.5.1165-a. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Bergen A. A., Meire F., ten Brink J., Schuurman E. J., van Ommen G. J., Delleman J. W. Additional evidence for a gene locus for progressive cone dystrophy with late rod involvement in Xp21.1-p11.3. Genomics. 1993 Nov;18(2):463–464. doi: 10.1006/geno.1993.1504. [DOI] [PubMed] [Google Scholar]
  3. Bhattacharya S. S., Wright A. F., Clayton J. F., Price W. H., Phillips C. I., McKeown C. M., Jay M., Bird A. C., Pearson P. L., Southern E. M. Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28. Nature. 1984 May 17;309(5965):253–255. doi: 10.1038/309253a0. [DOI] [PubMed] [Google Scholar]
  4. Coleman M., Bhattacharya S., Lindsay S., Wright A., Jay M., Litt M., Craig I., Davies K. Localization of the microsatellite probe DXS426 between DXS7 and DXS255 on Xp and linkage to X-linked retinitis pigmentosa. Am J Hum Genet. 1990 Dec;47(6):935–940. [PMC free article] [PubMed] [Google Scholar]
  5. Denton M. J., Chen J. D., Serravalle S., Colley P., Halliday F. B., Donald J. Analysis of linkage relationships of X-linked retinitis pigmentosa with the following Xp loci: L1.28, OTC, 754, XJ-1.1, pERT87, and C7. Hum Genet. 1988 Jan;78(1):60–64. doi: 10.1007/BF00291236. [DOI] [PubMed] [Google Scholar]
  6. Feinberg A. P., Vogelstein B. A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal Biochem. 1983 Jul 1;132(1):6–13. doi: 10.1016/0003-2697(83)90418-9. [DOI] [PubMed] [Google Scholar]
  7. Friedrich U., Warburg M., Wieacker P., Wienker T. F., Gal A., Ropers H. H. X-linked retinitis pigmentosa: linkage with the centromere and a cloned DNA sequence from the proximal short arm of the X chromosome. Hum Genet. 1985;71(2):93–99. doi: 10.1007/BF00283360. [DOI] [PubMed] [Google Scholar]
  8. Goodfellow P. N., Davies K. E., Ropers H. H. Report of the Committee on the Genetic Constitution of the X and Y Chromosomes. Cytogenet Cell Genet. 1985;40(1-4):296–352. doi: 10.1159/000132178. [DOI] [PubMed] [Google Scholar]
  9. Hartley D. A., Davies K. E., Drayna D., White R. L., Williamson R. A cytological map of the human X chromosome--evidence for non-random recombination. Nucleic Acids Res. 1984 Jul 11;12(13):5277–5285. doi: 10.1093/nar/12.13.5277. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Heckenlively J. R., Weleber R. G. X-linked recessive cone dystrophy with tapetal-like sheen. A newly recognized entity with Mizuo-Nakamura phenomenon. Arch Ophthalmol. 1986 Sep;104(9):1322–1328. doi: 10.1001/archopht.1986.01050210076029. [DOI] [PubMed] [Google Scholar]
  11. Hong H. K., Giorda R., Trucco M., Chakravarti A. Dinucleotide repeat polymorphism at the DXS1146 locus. Hum Mol Genet. 1993 Jul;2(7):1078–1078. doi: 10.1093/hmg/2.7.1078. [DOI] [PubMed] [Google Scholar]
  12. Humphries P., Kenna P., Farrar G. J. On the molecular genetics of retinitis pigmentosa. Science. 1992 May 8;256(5058):804–808. doi: 10.1126/science.1589761. [DOI] [PubMed] [Google Scholar]
  13. Jacobson D. M., Thompson H. S., Bartley J. A. X-linked progressive cone dystrophy. Clinical characteristics of affected males and female carriers. Ophthalmology. 1989 Jun;96(6):885–895. doi: 10.1016/s0161-6420(89)32808-9. [DOI] [PubMed] [Google Scholar]
  14. Kajiwara K., Sandberg M. A., Berson E. L., Dryja T. P. A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens. Nat Genet. 1993 Mar;3(3):208–212. doi: 10.1038/ng0393-208. [DOI] [PubMed] [Google Scholar]
  15. Keunen J. E., van Everdingen J. A., Went L. N., Oosterhuis J. A., van Norren D. Color matching and foveal densitometry in patients and carriers of an X-linked progressive cone dystrophy. Arch Ophthalmol. 1990 Dec;108(12):1713–1719. doi: 10.1001/archopht.1990.01070140067031. [DOI] [PubMed] [Google Scholar]
  16. Kirchgessner C. U., Trofatter J. A., Mahtani M. M., Willard H. F., DeGennaro L. J. A highly polymorphic dinucleotide repeat on the proximal short arm of the human X chromosome: linkage mapping of the synapsin I/A-raf-1 genes. Am J Hum Genet. 1991 Jul;49(1):184–191. [PMC free article] [PubMed] [Google Scholar]
  17. Lathrop G. M., Lalouel J. M., Julier C., Ott J. Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet. 1985 May;37(3):482–498. [PMC free article] [PubMed] [Google Scholar]
  18. Levy E. R., Powell J. F., Buckle V. J., Hsu Y. P., Breakefield X. O., Craig I. W. Localization of human monoamine oxidase-A gene to Xp11.23-11.4 by in situ hybridization: implications for Norrie disease. Genomics. 1989 Aug;5(2):368–370. doi: 10.1016/0888-7543(89)90072-4. [DOI] [PubMed] [Google Scholar]
  19. Miller S. A., Dykes D. D., Polesky H. F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988 Feb 11;16(3):1215–1215. doi: 10.1093/nar/16.3.1215. [DOI] [PMC free article] [PubMed] [Google Scholar]
  20. Mukai S., Dryja T. P., Bruns G. A., Aldridge J. F., Berson E. L. Linkage between the X-linked retinitis pigmentosa locus and the L1.28 locus. Am J Ophthalmol. 1985 Aug 15;100(2):225–229. doi: 10.1016/0002-9394(85)90786-x. [DOI] [PubMed] [Google Scholar]
  21. Musarella M. A., Burghes A., Anson-Cartwright L., Mahtani M. M., Argonza R., Tsui L. C., Worton R. Localization of the gene for X-linked recessive type of retinitis pigmentosa (XLRP) to Xp21 by linkage analysis. Am J Hum Genet. 1988 Oct;43(4):484–494. [PMC free article] [PubMed] [Google Scholar]
  22. Nichols B. E., Sheffield V. C., Vandenburgh K., Drack A. V., Kimura A. E., Stone E. M. Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene. Nat Genet. 1993 Mar;3(3):202–207. doi: 10.1038/ng0393-202. [DOI] [PubMed] [Google Scholar]
  23. Nussbaum R. L., Lewis R. A., Lesko J. G., Ferrell R. Mapping X-linked ophthalmic diseases: II. Linkage relationship of X-linked retinitis pigmentosa to X chromosomal short arm markers. Hum Genet. 1985;70(1):45–50. doi: 10.1007/BF00389458. [DOI] [PubMed] [Google Scholar]
  24. Ott J., Bhattacharya S., Chen J. D., Denton M. J., Donald J., Dubay C., Farrar G. J., Fishman G. A., Frey D., Gal A. Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests. Proc Natl Acad Sci U S A. 1990 Jan;87(2):701–704. doi: 10.1073/pnas.87.2.701. [DOI] [PMC free article] [PubMed] [Google Scholar]
  25. Southern E. M. Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol. 1975 Nov 5;98(3):503–517. doi: 10.1016/s0022-2836(75)80083-0. [DOI] [PubMed] [Google Scholar]
  26. Wells J., Wroblewski J., Keen J., Inglehearn C., Jubb C., Eckstein A., Jay M., Arden G., Bhattacharya S., Fitzke F. Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. Nat Genet. 1993 Mar;3(3):213–218. doi: 10.1038/ng0393-213. [DOI] [PubMed] [Google Scholar]
  27. Wirth B., Denton M. J., Chen J. D., Neugebauer M., Halliday F. B., van Schooneveld M., Donald J., Bleeker-Wagemakers E. M., Pearson P. L., Gal A. Two different genes for X-linked retinitis pigmentosa. Genomics. 1988 Apr;2(3):263–266. doi: 10.1016/0888-7543(88)90011-0. [DOI] [PubMed] [Google Scholar]
  28. Wright A. F., Bhattacharya S. S., Clayton J. F., Dempster M., Tippett P., McKeown C. M., Jay M., Jay B., Bird A. C. Linkage relationships between X-linked retinitis pigmentosa and nine short-arm markers: exclusion of the disease locus from Xp21 and localization to between DXS7 and DXS14. Am J Hum Genet. 1987 Oct;41(4):635–644. [PMC free article] [PubMed] [Google Scholar]

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