Detection of Mutations in the Tyrosinase Gene in a Patient with Type IA Oculocutaneous Albinism

Abstract

OCULOCUTANEOUS albinism is a group of severe genetic disorders of pigmentation characterized by reduced or absent biosynthesis of melanin pigment in the melanocytes of the skin, hair follicle, and eye.1 Because of the striking phenotype, oculocutaneous albinism was one of the first genetic disorders recognized, and its typical clinical features,2 , 3 autosomal recessive mode of inheritance, and genetic heterogeneity2 3 4 are apparent even in classical descriptions. In the classic, most severe form of oculocutaneous albinism, Type IA, the lack of melanin biosynthesis results from the absence of activity of the enzyme tyrosinase (monophenol monooxygenase; EC 1.14.18.1) in pigment cells. Tyrosinase is a . . .