Skip to main content
SpringerLink
Log in

Homozygotes carrying an autosomal dominant TIGR mutation do not manifest glaucoma

  • Correspondence
  • Published:

From Nature Genetics

View current issue Submit your manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Figure 1: Phenotype/genotype correlation studies of the K423E TIGR mutation in pedigree GV-001.
Figure 2: Characterization of a carrier homozygous for the K423E TIGR mutation.

References

  1. Wilkie, A.O. J. Med. Genet. 31, 89–98 ( 1994).

    Article  CAS  Google Scholar 

  2. Wexler, N.S. et al. Nature 326, 194–197 ( 1987).

    Article  CAS  Google Scholar 

  3. Shields, M.B., Ritch, R. & Krupin, T. in The Glaucomas (eds Ritch, R., Shields, M.B. & Krupin, T.) 717–725 (Mosby, St. Louis, 1996).

    Google Scholar 

  4. Raymond, V. Am. J. Hum. Genet. 60, 272–277 ( 1997).

    CAS  PubMed  PubMed Central  Google Scholar 

  5. Sarfarazi, M. Hum. Mol. Genet. 6, 1667–1677 ( 1997).

    Article  CAS  Google Scholar 

  6. Kubota, R. et al. Genomics 41, 360–369 ( 1997).

    Article  CAS  Google Scholar 

  7. Stone, E.M. et al. Science 275, 668–670 ( 1997).

    Article  CAS  Google Scholar 

  8. Adam, M.F. et al. Hum. Mol. Genet. 6, 2091–2097 (1997).

    Article  CAS  Google Scholar 

  9. Mansergh, F.C. et al. Hum. Mutat. 11, 244–251 (1998).

    Article  CAS  Google Scholar 

  10. Alward, W.L.M. et al. N. Engl. J. Med. 338, 1022–1027 (1998).

    Article  CAS  Google Scholar 

  11. Morissette, J. et al. Am. J. Hum. Genet. 56, 1431–1442 (1995).

    CAS  PubMed  PubMed Central  Google Scholar 

  12. Little, S. in Current Protocols in Human Genetics (eds Dracopoli, N.C. et al. ) 9.8.1– 9.8.12 (John Wiley & Sons, New York, 1997).

    Google Scholar 

  13. Johnson, W.G. Am. J. Hum. Genet. 32, 374–386 ( 1980).

    CAS  PubMed  PubMed Central  Google Scholar 

  14. Nguyen, T.D. et al. J. Biol. Chem. 273, 6341–6350 (1998).

    Article  CAS  Google Scholar 

Download references

Acknowledgements

We are grateful to the family members for their participation. We thank M.-F. M. and B.B. for their assistance, G. Cantin for pedigree reconstruction and D. Arbour, J. Bergeron, S. Lahoud and J.-P. Leblanc for contributing clinical information. We acknowledge C. Lemay and F. Simard of the CHUL Eye Bank for their generous contribution. This work was supported by the Medical Research Council of Canada, The Glaucoma Research Foundation and the National Institutes of Health. S. M. was supported by an MRC studentship. P.F. and V.R. were, respectively, 'chercheur-boursier' and 'chercheur-boursier clinicien' of the Fonds de la Recherche en Santé du Québec.

Author information

Authors and Affiliations

  1. Laboratory of Molecular Endocrinology, Centre Hospitalier de l'Université Laval (CHUL), Research Center, T3-67, 2705 Laurier Blvd., Québec City, G1V 4G2, Province of Québec, Canada

    Jean Morissette, Steve Moisan, Stéphane Dubois, Eric Winstall, Diana Vermeeren, Micheline Plante & Vincent Raymond

  2. Généthon, 1 rue de l'Internationale , Evry, 91000, France

    Christian Clépet

  3. Department of Ophthalmology, Cellular Pharmacology and Molecular Biology Laboratories, University of California at San Francisco Medical Center, San Francisco, 94143-0730, California, USA

    Thai Nguyen & Jon Polansky

  4. Department of Ophthalmology, Université Laval and St.-Sacrement Hospital, Québec City, G1S 4L8, Québec, Canada

    Gilles Côté & Jean-Louis Anctil

  5. Department of Ophthalmology, Université de Montréal and Maisonneuve-Rosemont Hospital, Montréal, H1T 2M4, Québec, Canada

    Marcel Amyot

  6. Neuroscience Research Unit, CHUL Research Center, Québec City, G1V 4G2, Province of Québec, Canada

    Pierre Falardeau

Authors
  1. Jean Morissette
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Christian Clépet
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Steve Moisan
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Stéphane Dubois
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Eric Winstall
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Diana Vermeeren
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Thai Nguyen
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Jon Polansky
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Gilles Côté
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. Jean-Louis Anctil
    View author publications

    You can also search for this author in PubMed Google Scholar

  11. Marcel Amyot
    View author publications

    You can also search for this author in PubMed Google Scholar

  12. Micheline Plante
    View author publications

    You can also search for this author in PubMed Google Scholar

  13. Pierre Falardeau
    View author publications

    You can also search for this author in PubMed Google Scholar

  14. Vincent Raymond
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Vincent Raymond.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Morissette, J., Clépet, C., Moisan, S. et al. Homozygotes carrying an autosomal dominant TIGR mutation do not manifest glaucoma. Nat Genet 19, 319–321 (1998). https://doi.org/10.1038/1203

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1038/1203

  • Springer Nature America, Inc.

This article is cited by

Search

Navigation