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Progress in Positional Cloning of RP10 (7q31.3), RP1 (8q11–q21), and VMD1 (8q24)

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Degenerative Retinal Diseases

Abstract

The goal of our research is to determine the genes and mutations causing autosomal dominant retinitis pigmentosa (adRP) and related diseases. As is now common knowledge, this deceptively-simple goal is confounded by the exceptional heterogeneity of retinitis pigmentosa and other forms of retinal degeneration. This heterogeneity includes allelic heterogeneity, i.e., different mutations in the same gene causing different clinical phenotypes or modes of inheritance; genetic heterogeneity, i.e., different genes causing similar diseases; and clinical heterogeneity, i.e., the same gene—even the same allele—causing disimilar diseases in different individuals, even within the same family.

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Author information

Authors and Affiliations

  1. Human Genetics Center, School of Public Health, Houston, Texas, USA

    Stephen P. Daiger, Rachel E. McGuire, Lori S. Sullivan & Melanie M. Sohocki

  2. Department of Ophthalmology and Visual Science, The University of Texas Health Science Center, Houston, Texas, USA

    Stephen P. Daiger & Helen Mintz-Hittner

  3. Genome Technology Branch National Center for Human Genome Research, National Institutes of Health, Bethesda, Maryland, USA

    Rachel E. McGuire & Eric D. Green

  4. Department of Pediatrics, University of Virginia, Charlotte, Virginia, USA

    Susan H. Blanton

  5. Ocular Genetics Unit, Department of Genetics, Trinity College, Dublin, Ireland

    Peter Humphries

  6. Jules Stein Eye Institute, University of California, USA

    John R. Heckenlively

Authors
  1. Stephen P. Daiger
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  2. Rachel E. McGuire
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  4. Melanie M. Sohocki
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  5. Susan H. Blanton
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  6. Peter Humphries
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  7. Eric D. Green
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  8. Helen Mintz-Hittner
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  9. John R. Heckenlively
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Editor information

Editors and Affiliations

  1. University of California, San Francisco, San Francisco, California, USA

    Matthew M. LaVail

  2. Cleveland Clinic Foundation, Cleveland, Ohio, USA

    Joe G. Hollyfield

  3. University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA

    Robert E. Anderson

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© 1997 Springer Science+Business Media New York

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Daiger, S.P. et al. (1997). Progress in Positional Cloning of RP10 (7q31.3), RP1 (8q11–q21), and VMD1 (8q24). In: LaVail, M.M., Hollyfield, J.G., Anderson, R.E. (eds) Degenerative Retinal Diseases. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-5933-7_30

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  • DOI: https://doi.org/10.1007/978-1-4615-5933-7_30

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4613-7718-4

  • Online ISBN: 978-1-4615-5933-7

  • eBook Packages: Springer Book Archive

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