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Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts

Nature Genetics volume 10, pages 307–312 (1995)Cite this article

Abstract

Galactokinase is an essential enzyme for the metabolism of galactose and its deficiency causes congenital cataracts during infancy and presenile cataracts in the adult population. We have cloned the human galactokinase cDNA, which maps to chromosome 17q24, and show that the isolated cDNA expresses galactokinase activity in bacteria and mammalian cells. We also describe two different mutations in this gene in unrelated families with galactokinase deficiency and cataracts. The availably of the cloned galactokinase gene provides an important reference to identify mutations in patients with galactokinase deficiency and cataracts.

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Authors and Affiliations

  1. Department of Ophthalmology, School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, 19104, USA

    Dwight Stambolian & Kristin Nesburn

  2. Department of Genetics, School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, 19104, USA

    Dwight Stambolian, Yunjun Ai & Duska Sidjanin

  3. Department of Molecular Genetics, Smith Kline Beecham Pharmaceutical, King of Prussia, Pennsylvania, 19046, USA

    Ganesh Sathe, Martin Rosenberg & Derk J. Bergsma

  4. Institute for Human Gene Therapy, University of Pennsylvania, BRB-1, Room 305, 422 Curie Blvd., Philadelphia, Pennsylvania, 19104, USA

    Dwight Stambolian

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Stambolian, D., Ai, Y., Sidjanin, D. et al. Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts. Nat Genet 10, 307–312 (1995). https://doi.org/10.1038/ng0795-307

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