Skip to main content
PMC home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1996 Jun;33(6):518–520. doi: 10.1136/jmg.33.6.518

A new family linked to the RP13 locus for autosomal dominant retinitis pigmentosa on distal 17p.

E E Tarttelin 1, C Plant 1, J Weissenbach 1, A C Bird 1, S S Bhattacharya 1, C F Inglehearn 1
PMCID: PMC1050642  PMID: 8782056

Abstract

A form of autosomal dominant retinitis pigmentosa (ADRP) mapping to chromosome 17p has been reported in a single large South African family. We now report a new family with severe early onset ADRP which maps to 17p. Linkage and haplotype analysis in this family places the ADRP locus in the 5 cM interval between markers AFMc024za5 and D17S1845, confirming the data obtained in the South African family. The discovery of a second 17p linked family may imply that this is one of the more common loci for dominant RP. In addition, the confirmation of an RP diagnosis at this locus is of interest since loci for a dominant cone dystrophy and Leber's congenital amaurosis (LCA1) have recently been linked to the same markers. While the cone dystrophy locus may be allelic with RP, our data and that of Goliath et al show that distinct genes are responsible for dominant RP and Leber's congenital amaurosis on chromosome 17p.

Full text

PDF
518

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Attwood J., Bryant S. A computer program to make linkage analysis with LIPED and LINKAGE easier to perform and less prone to input errors. Ann Hum Genet. 1988 Jul;52(Pt 3):259–259. doi: 10.1111/j.1469-1809.1988.tb01103.x. [DOI] [PubMed] [Google Scholar]
  2. Bardien S., Ebenezer N., Greenberg J., Inglehearn C. F., Bartmann L., Goliath R., Beighton P., Ramesar R., Bhattacharya S. S. An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q. Hum Mol Genet. 1995 Aug;4(8):1459–1462. doi: 10.1093/hmg/4.8.1459. [DOI] [PubMed] [Google Scholar]
  3. Blanton S. H., Heckenlively J. R., Cottingham A. W., Friedman J., Sadler L. A., Wagner M., Friedman L. H., Daiger S. P. Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8. Genomics. 1991 Dec;11(4):857–869. doi: 10.1016/0888-7543(91)90008-3. [DOI] [PubMed] [Google Scholar]
  4. Camuzat A., Dollfus H., Rozet J. M., Gerber S., Bonneau D., Bonnemaison M., Briard M. L., Dufier J. L., Ghazi I., Leowski C. A gene for Leber's congenital amaurosis maps to chromosome 17p. Hum Mol Genet. 1995 Aug;4(8):1447–1452. doi: 10.1093/hmg/4.8.1447. [DOI] [PubMed] [Google Scholar]
  5. Farrar G. J., Jordan S. A., Kenna P., Humphries M. M., Kumar-Singh R., McWilliam P., Allamand V., Sharp E., Humphries P. Autosomal dominant retinitis pigmentosa: localization of a disease gene (RP6) to the short arm of chromosome 6. Genomics. 1991 Dec;11(4):870–874. doi: 10.1016/0888-7543(91)90009-4. [DOI] [PubMed] [Google Scholar]
  6. Goliath R., Shugart Y., Janssens P., Weissenbach J., Beighton P., Ramasar R., Greenberg J. Fine localization of the locus for autosomal dominant retinitis pigmentosa on chromosome 17p. Am J Hum Genet. 1995 Oct;57(4):962–965. [PMC free article] [PubMed] [Google Scholar]
  7. Greenberg J., Goliath R., Beighton P., Ramesar R. A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17. Hum Mol Genet. 1994 Jun;3(6):915–918. doi: 10.1093/hmg/3.6.915. [DOI] [PubMed] [Google Scholar]
  8. Gyapay G., Morissette J., Vignal A., Dib C., Fizames C., Millasseau P., Marc S., Bernardi G., Lathrop M., Weissenbach J. The 1993-94 Généthon human genetic linkage map. Nat Genet. 1994 Jun;7(2 Spec No):246–339. doi: 10.1038/ng0694supp-246. [DOI] [PubMed] [Google Scholar]
  9. Inglehearn C. F., Carter S. A., Keen T. J., Lindsey J., Stephenson A. M., Bashir R., al-Maghtheh M., Moore A. T., Jay M., Bird A. C. A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p. Nat Genet. 1993 May;4(1):51–53. doi: 10.1038/ng0593-51. [DOI] [PubMed] [Google Scholar]
  10. Inglehearn C. F., Keen T. J., Bashir R., Jay M., Fitzke F., Bird A. C., Crombie A., Bhattacharya S. A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa. Hum Mol Genet. 1992 Apr;1(1):41–45. doi: 10.1093/hmg/1.1.41. [DOI] [PubMed] [Google Scholar]
  11. Jordan S. A., Farrar G. J., Kenna P., Humphries M. M., Sheils D. M., Kumar-Singh R., Sharp E. M., Soriano N., Ayuso C., Benitez J. Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q. Nat Genet. 1993 May;4(1):54–58. doi: 10.1038/ng0593-54. [DOI] [PubMed] [Google Scholar]
  12. Lathrop G. M., Lalouel J. M., Julier C., Ott J. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci U S A. 1984 Jun;81(11):3443–3446. doi: 10.1073/pnas.81.11.3443. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Lyness A. L., Ernst W., Quinlan M. P., Clover G. M., Arden G. B., Carter R. M., Bird A. C., Parker J. A. A clinical, psychophysical, and electroretinographic survey of patients with autosomal dominant retinitis pigmentosa. Br J Ophthalmol. 1985 May;69(5):326–339. doi: 10.1136/bjo.69.5.326. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Massof R. W., Finkelstein D. Two forms of autosomal dominant primary retinitis pigmentosa. Doc Ophthalmol. 1981 Nov;51(4):289–346. doi: 10.1007/BF00143336. [DOI] [PubMed] [Google Scholar]
  15. McGuire R. E., Gannon A. M., Sullivan L. S., Rodriguez J. A., Daiger S. P. Evidence for a major gene (RP10) for autosomal dominant retinitis pigmentosa on chromosome 7q: linkage mapping in a second, unrelated family. Hum Genet. 1995 Jan;95(1):71–74. doi: 10.1007/BF00225078. [DOI] [PubMed] [Google Scholar]
  16. Millán J. M., Martínez F., Vilela C., Beneyto M., Prieto F., Nájera C. An autosomal dominant retinitis pigmentosa family with close linkage to D7S480 on 7q. Hum Genet. 1995 Aug;96(2):216–218. doi: 10.1007/BF00207382. [DOI] [PubMed] [Google Scholar]
  17. Sung C. H., Davenport C. M., Hennessey J. C., Maumenee I. H., Jacobson S. G., Heckenlively J. R., Nowakowski R., Fishman G., Gouras P., Nathans J. Rhodopsin mutations in autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci U S A. 1991 Aug 1;88(15):6481–6485. doi: 10.1073/pnas.88.15.6481. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. al-Maghtheh M., Inglehearn C. F., Keen T. J., Evans K., Moore A. T., Jay M., Bird A. C., Bhattacharya S. S. Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19. Hum Mol Genet. 1994 Feb;3(2):351–354. doi: 10.1093/hmg/3.2.351. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES