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The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism

Authors

  • William S. Oetting,

    Corresponding author
    1. Department of Experimental and Clinical Pharmacology, University of Minnesota, Minneapolis, Minnesota
    2. Institute of Human Genetics, University of Minnesota, Minneapolis, Minnesota
    • MMC 485, 420 Delaware St. S.E., University of Minnesota, Minneapolis, MN 55455.
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  • Jacy Pietsch,

    1. Institute of Human Genetics, University of Minnesota, Minneapolis, Minnesota
    2. Department of Medicine, University of Minnesota, Minneapolis, Minnesota
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  • Marcia J. Brott,

    1. Department of Experimental and Clinical Pharmacology, University of Minnesota, Minneapolis, Minnesota
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  • Sarah Savage,

    1. Institute of Human Genetics, University of Minnesota, Minneapolis, Minnesota
    2. Department of Medicine, University of Minnesota, Minneapolis, Minnesota
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  • James P. Fryer,

    1. Institute of Human Genetics, University of Minnesota, Minneapolis, Minnesota
    2. Department of Medicine, University of Minnesota, Minneapolis, Minnesota
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  • C. Gail Summers,

    1. Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota
    2. Department of Ophthalmology, University of Minnesota, Minneapolis, Minnesota
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  • Richard A. King

    1. Institute of Human Genetics, University of Minnesota, Minneapolis, Minnesota
    2. Department of Medicine, University of Minnesota, Minneapolis, Minnesota
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  • How to cite this article: Oetting WS, Pietsch J, Brott MJ, Savage S, Fryer JP, Summers CG, King RA. 2009. The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism. Am J Med Genet Part A 149A:466–469.

Abstract

Mutations in the gene for tyrosinase, the key enzyme in melanin synthesis, are responsible for oculocutaneous albinism type 1, and more than 100 mutations of this gene have been identified. The c.1205G > A variant of the tyrosinase gene (rs1126809) predicts p.R402Q and expression studies show thermolabile enzyme activity for the variant protein. The Q402 allele has been associated with autosomal recessive ocular albinism when it is in trans with a tyrosinase gene mutation associated with oculocutaneous albinism type 1. We have identified 12 families with oculocutaneous albinism type 1 that exhibit segregation of the c.1205G > A variant with a known pathologic mutation on the homologous chromosome, and demonstrate no genetic association between autosomal recessive oculocutaneous albinism and the Q402 variant. We conclude that the codon 402 variant of the tyrosinase gene is not associated with albinism. © 2009 Wiley-Liss, Inc.

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