Genetic Disorders of Pigmentation

  • Richard A. Spritz
  • Vincent J. HearingJr.
Part of the Advances in Human Genetics book series (AHUG, volume 22)


Disorders of pigmentation were among the first genetic disorders recognized in humans. The distinctive phenotypes of oculocutaneous albinism (OCA) and piebaldism were known to the ancient Greeks and Romans, and the typical clinical features, modes of inheritance, and genetic heterogeneity of these disorders are apparent even in classical descriptions (Lucian, 1905; Pliny, 1942; Gellius, 1952). Similar phenotypes were recognized early in the mouse, and the availability of inbred lines carrying characterized mutations has made the mouse an invaluable tool for studies of genetic disorders of pigmentation. Absent catalytic activity of tyrosinase in the skin of albino animals was one of the first enzymatic deficiencies recognized (Durham, 1904), and as early as 1908 Garrod suggested that albinism might be an inborn error of metabolism (Garrod, 1908).


PAX3 Gene Menkes Disease Missense Substitution Tyrosinase Gene Oculocutaneous Albinism 
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Copyright information

© Springer Science+Business Media New York 1994

Authors and Affiliations

  • Richard A. Spritz
    • 1
  • Vincent J. HearingJr.
    • 2
  1. 1.Departments of Medical Genetics and PediatricsUniversity of WisconsinMadisonUSA
  2. 2.Laboratory of Cell Biology, National Cancer InstituteNational Institutes of HealthBethesdaUSA

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